Publications

A quantitative, Bayesian-informed approach to gene-specific variant classification: Updated Expert Panel recommendations improve classification of TP53 germline variants for Li-Fraumeni syndrome

Specifications of the ACMG/AMP variant curation guidelines for the analysis of germline PALB2 sequence variants

Gene-Disease Relationships in Kidney Genetics

Towards an integrated resource for pharmacogenomics (PGx): Survey findings from the genomic medicine communities

Adaptation of ACMG/AMP Guidelines for Clinical Classification of BMPR2 Variants in Pulmonary Arterial Hypertension Resolves Variants of Unclear Pathogenicity in ClinVar

Updated ACMG/AMP specifications for variant interpretation and gene curations from the ClinGen RASopathy expert panels

The ClinGen Syndromic Disorders Gene Curation Expert Panel: Assessing the clinical validity of 111 gene-disease relationships

Genes Associated With Hypertrophic Cardiomyopathy: A Reappraisal by the ClinGen Hereditary Cardiovascular Disease Gene Curation Expert Panel

ClinGen recuration of hearing loss associated-genes demonstrates significant changes in gene-disease validity over time

Expert panel curation of 31 genes in relation to limb girdle muscular dystrophy

Curation of gene-disease relationships in primary antibody deficiencies using the ClinGen validation framework

Integrating Pharmacogenomics into the Broader Construct of Genomic Medicine: Efforts by the ClinGen Pharmacogenomics Working Group (PGxWG)

A guide to gene-disease relationships in nephrology

The Clinical Genome Resource (ClinGen): Advancing genomic knowledge through global curation

Large-scale application of ClinGen-InSiGHT APC-specific ACMG/AMP variant classification criteria leads to substantial reduction in VUS

Specifications of the ACMG/AMP variant curation guidelines for the analysis of germline ATM sequence variants

Implementation of a dyadic nomenclature for monogenic diseases

Developing a scoring system for gene curation prioritization in lysosomal diseases

Evidence-based recommendations for gene-specific ACMG/AMP variant classification from the ClinGen ENIGMA BRCA1 and BRCA2 Variant Curation Expert Panel

Assessment of the evidence yield for the calibrated PP3/BP4 computational recommendations

Curating Genetic Associations With Rheumatologic Autoimmune Diseases to Improve Patient Outcomes

Specifications of the ACMG/AMP Variant Curation Guidelines for Hereditary Hemorrhagic Telangiectasia Genes—ENG and ACVRL1

Implementing Evidence-Based Assertions of Clinical Actionability in the Context of Secondary Findings: Updates from the ClinGen Actionability Working Group

Generating Clinical-Grade Gene–Disease Validity Classifications Through the ClinGen Data Platforms

Expansion of the Genotypic and Phenotypic Spectrum of ASH1L-Related Syndromic Neurodevelopmental Disorder

ClinGen variant curation expert panel recommendations for classification of variants in GAMT, GATM and SLC6A8 for cerebral creatine deficiency syndromes

ClinGen guidance for use of the PP1/BS4 co-segregation and PP4 phenotype specificity criteria for sequence variant pathogenicity classification

Clinical variants paired with phenotype: A rich resource for brain gene curation

Recommendations for Risk Allele Evidence Curation, Classification, and Reporting from the ClinGen Low Penetrance/Risk Allele Working Group

Evaluating the clinical validity of genes related to hemostasis and thrombosis using the ClinGen gene curation framework

Variant Classification for Pompe disease; ACMG/AMP specifications from the ClinGen Lysosomal Diseases Variant Curation Expert Panel

Gene-specific ACMG/AMP classification criteria for germline APC variants: recommendations from the ClinGen InSiGHT Hereditary Colorectal Cancer / Polyposis Variant Curation Expert Panel

Expert Panel Curation of 113 Primary Mitochondrial Disease Genes for the Leigh Syndrome Spectrum

Specifications of the ACMG/AMP guidelines for ACADVL variant interpretation

Defining the clinical validity of genes reported to cause pulmonary arterial hypertension

Application of the ACMG/AMP Framework to Capture Evidence Relevant to Predicted and Observed Impact on Splicing: Recommendations from the ClinGen SVI Splicing Subgroup

Specifications of the ACMG/AMP Variant Classification Guidelines for Germline DICER1 Variant Curation

Clinical testing panels for ALS: global distribution, consistency, and challenges

Optimising clinical care through CDH1-specific germline variant curation: improvement of clinical assertions and updated curation guidelines

Calibration of computational tools for missense variant pathogenicity classification and ClinGen recommendations for PP3/BP4 criteria

Updated variant curation expert panel criteria and pathogenicity classifications for 251 variants for RYR1-related malignant hyperthermia susceptibility

Specifications of the ACMG/AMP variant curation guidelines for myocilin: Recommendations from the clingen glaucoma expert panel

The ClinGen Brain Malformation Variant Curation Expert Panel: Rules for somatic variants in AKT3, MTOR, PIK3CA, and PIK3R2

Clinical validity assessment of genes frequently tested on intellectual disability/autism sequencing panels

Lumping versus Splitting: How to approach defining a disease to enable accurate genomic curation

The Gene Curation Coalition: A global effort to harmonize gene-disease evidence resources

Evaluation of gene validity for CPVT and short QT syndrome in sudden arrhythmic death

ClinGen’s Pediatric Actionability Working Group: Clinical actionability of secondary findings from genome-scale sequencing in children and adolescents

Standardized evidence-based approach for assessment of oncogenic and clinical significance of NTRK fusions

Standards for the classification of pathogenicity of somatic variants in cancer (oncogenicity): Joint recommendations of Clinical Genome Resource (ClinGen), Cancer Genomics Consortium (CGC), and Variant Interpretation for Cancer Consortium (VICC)

ClinGen Variant Curation Interface: a variant classification platform for the application of evidence criteria from ACMG/AMP guidelines

The Clinical Genome Resource (ClinGen) Familial Hypercholesterolemia Variant Curation Expert Panel consensus guidelines for LDLR variant classification

Recommendations by the ClinGen Rett/Angelman-like Expert Panel for Gene-specific Variant Interpretation Methods

Recommendations for future extensions to the HGNC gene fusion nomenclature

The GA4GH Variation Representation Specification: A computational framework for variation representation and federated identification

Utilizing ClinGen gene-disease validity and dosage sensitivity curations to inform variant classification

Evaluating the impact of in silico predictors on clinical variant classification

Creation of an Expert Curated Variant List for Clinical Genomic Test Development and Validation: A ClinGen and GeT-RM Collaborative Project

Disease-specific ACMG/AMP guidelines improve sequence variant interpretation for hearing loss

Recontacting registry participants with genetic updates through GenomeConnect, the ClinGen patient registry

Somatic Oncogenicity SOP

Evidence-Based Assessment of Genes in Dilated Cardiomyopathy

Application of a framework to guide genetic testing communication across clinical indications

International Evidence Based Reappraisal of Genes Associated With Arrhythmogenic Right Ventricular Cardiomyopathy Using the Clinical Genome Resource Framework

Variant Curation Expert Panel Recommendations for RYR1 Pathogenicity Assertions in Malignant Hyperthermia Susceptibility

Improving reporting standards for polygenic scores in risk prediction studies

Specifications of the variant curation guidelines for ITGA2B/ITGB3: ClinGen Platelet Disorder Variant Curation Panel

The GA4GH Variation Representation Specification (VRS): a Computational Framework for the Precise Representation and Federated Identification of Molecular Variation

Specifications of the ACMG/AMP variant interpretation guidelines for germline TP53 variants

Expert Interpretation of Genes and Variants in Hereditary Hearing Loss

Specifications of the ACMG/AMP Standards and Guidelines for Mitochondrial DNA Variant Interpretation

How I Curate: Applying American Society Of Hematology-Clinical Genome Resource Myeloid Malignancy Variant Curation Expert Panel Rules For RUNX1 Variant Curation For Germline Predisposition To Myeloid Malignancies

An International, Multicentered, EvidenceBased Reappraisal of Genes Reported to Cause Congenital Long QT Syndrome

Recommendations for application of the functional evidence PS3/BS3 criterion using the ACMG/AMP sequence variant interpretation framework

Comparative analysis of functional assay evidence use by ClinGen Variant Curation Expert Panels

Variant interpretation is a component of clinical practice among genetic counselors in multiple specialties

Technical Standards for the Interpretation and Reporting of Constitutional Copy-Number Variants: A Joint Consensus Recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen)

A case for expert curation: an overview of cancer curation in the Clinical Genome Resource (ClinGen)

ClinGen Myeloid Malignancy Variant Curation Expert Panel recommendations for germline RUNX1 variants

Assessing the strength of evidence for genes implicated in fatty acid oxidation disorders using the ClinGen clinical validity framework

Consensus interpretation of the p.Met34Thr and p.Val37Ile variants in GJB2 by the ClinGen Hearing Loss Expert Panel

Expert and lay perspectives on burden, risk, tolerability, and acceptability of clinical interventions for genetic disorders

ClinGen Expert Clinical Validity Curation of 164 Hearing Loss Gene–Disease Pairs

Evaluating the Clinical Validity of Hypertrophic Cardiomyopathy Genes

A survey assessing adoption of the ACMG-AMP guidelines for interpreting sequence variants and identification of areas for continued improvement

Determining the clinical validity of hereditary colorectal cancer and polyposis susceptibility genes using the Clinical Genome Resource Clinical Validity Framework

Clinical validity assessment of genes frequently tested on hereditary breast and ovarian cancer susceptibility sequencing panels

Specifications of the ACMG/AMP variant curation guidelines for the analysis of germline CDH1 sequence variants

Evidence-Based Assessments of Clinical Actionability in the Context of Secondary Findings: Updates from ClinGen’s Actionability Working Group

ClinGen advancing genomic data-sharing standards as a GA4GH driver project

The value of genomic variant ClinVar submissions from clinical providers: Beyond the addition of novel variants

Quantifying the potential of functional evidence to reclassify variants of uncertain significance in the categorical and Bayesian interpretation frameworks.

Unique aspects of sequence variant interpretation for inborn errors of metabolism (IEM): The ClinGen IEM Working Group and the Phenylalanine Hydroxylase Gene

ClinGen Variant Curation Expert Panel experiences and standardized processes for disease and gene-level specification of the ACMG/AMP guidelines for sequence variant interpretation

ClinVar database of global familial hypercholesterolemia-associated DNA variants

ClinVar at five years: Delivering on the promise

Expert specification of the ACMG/AMP variant interpretation guidelines for genetic hearing loss

Assessing the gene-disease association of 19 genes with the RASopathies using the ClinGen gene curation framework

Updated recommendation for the benign stand-alone ACMG/AMP criterion

Gene-specific criteria for PTEN variant curation: Recommendations from the ClinGen PTEN Expert Panel

Scaling resolution of variant classification differences in ClinVar between 41 clinical laboratories through an outlier approach

The ClinGen Epilepsy Gene Curation Expert Panel-Bridging the divide between clinical domain knowledge and formal gene curation criteria

ClinGen Allele Registry links information about genetic variants

The clinical imperative for inclusivity: Race, ethnicity, and ancestry (REA) in genomics

The progression of the ClinGen gene clinical validity classification over time

Adapting crowdsourced clinical cancer curation in CIViC to the ClinGen minimum variant level data community-driven standards

ClinGen's GenomeConnect registry enables patient-centered data sharing

Integrating somatic variant data and biomarkers for germline variant classification in cancer predisposition genes

Recommendations for interpreting the loss of function PVS1 ACMG/AMP variant criterion

Copy number variant discrepancy resolution using the ClinGen dosage sensitivity map results in updated clinical interpretations in ClinVar

ClinGen and ClinVar – Enabling Genomics in Precision Medicine

Development of Clinical Domain Working Groups for the Clinical Genome Resource (ClinGen): Lessons Learned and Plans for the Future

Clinical Validity of Genes for Heritable Thoracic Aortic Aneurysm and Dissection

Clinical Genetic Testing for Familial Hypercholesterolemia

Harmonizing Outcomes for Genomic Medicine: Comparison of eMERGE Outcomes to ClinGen Outcome/Intervention Pairs

A harmonized meta-knowledgebase of clinical interpretations of cancer genomic variants

Developing a conceptual, reproducible, rubric-based approach to consent and result disclosure for genetic testing by clinicians with minimal genetics background

Reappraisal of Reported Genes for Sudden Arrhythmic Death: An Evidence-Based Evaluation of Gene Validity for Brugada Syndrome

Development of a Consent Resource for Genomic Data Sharing in the Clinical Setting

ClinVar Miner: Demonstrating Utility of a Web-based Tool for Viewing and Filtering ClinVar Data

The ACMG/AMP Reputable Source Criteria for the Interpretation of Sequence Variants

ClinGen's RASopathy Expert Panel consensus methods for variant interpretation

Points to consider for sharing variant level information from clinical genetic testing with ClinVar

Adaptation and validation of the ACMG/AMP variant classification framework for MYH7-associated inherited cardiomyopathies: recommendations by ClinGen's Inherited Cardiomyopathy Expert Panel

Modeling the ACMG/AMP variant classification gudielines as a Bayesian classification framework

ClinGen Cancer Somatic Working Group - standardizing and democratizing access to cancer molecular diagnostic data to drive translational research

Evaluating the Clinical Validity of Gene-Disease Associations: An Evidence-Based Framework Developed by the Clinical Genome Resource.

Clinical laboratories collaborate to resolve differences in variant interpretations submitted to ClinVar

ClinGen Pathogenicity Calculator: a configurable system for assessing pathogenicity of genetic variants

Reassessment of Genomic Sequence Variation to Harmonize Interpretation for Personalized Medicine

Somatic cancer variant curation and harmonization through consensus minimum variant level data

REVEL: An ensemble method for predicting the pathogenicity of rare missense variants

A missing link in the bench-to-bedside paradigm: engaging regulatory stakeholders in clinical genomics research

Integrating Genomic Resources with Electronic Health Records using the HL7 Infobutton Standard

A semiquantitative metric for evaluating clinical actionability of incidental or secondary findings from genome-scale sequencing

A standardized, evidence-based protocol to assess clinical actionability of genetic disorders associated with genomic variation

Using ClinVar as a Resource to Support Variant Interpretation

Providing Access to Genomic Variant Knowledge in a Healthcare Setting: A Vision for the ClinGen Electronic Health Records Workgroup

GenomeConnect: Matchmaking Between Patients, Clinical Laboratories, and Researchers to Improve Genomic Knowledge

ClinGen - The Clinical Genome Resource

Detection of Chromosomal Aberrations in Clinical Practice: From Karyotype to Genome Sequence

Lack of specificity of ACMG classification rules decreases inter-curator concordance. ClinGen's adaptation of ACMG's framework to standardize interpretation of MYH7 related cardiomyopathy variants.

Genomic variation: lessons learned from whole-genome CNV analysis

Characterizing genetic variants for clinical action

Chromosomal microarray impacts clinical management

Description and pilot results from a novel method for evaluating return of incidental findings from next-generation sequencing technologies

Towards an evidence‐based process for the clinical interpretation of copy number variation