Last Updated: 09/26/2026
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Found 10 publications
Disease-specific ACMG/AMP guidelines improve sequence variant interpretation for hearing loss.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: February 04, 2021
Correction: ClinGen expert clinical validity curation of 164 hearing loss gene-disease pairs.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: May 23, 2019
ClinGen expert clinical validity curation of 164 hearing loss gene-disease pairs.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: January 11, 2019
Consensus interpretation of the p.Met34Thr and p.Val37Ile variants in GJB2 by the ClinGen Hearing Loss Expert Panel.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: December 09, 2018
A survey assessing adoption of the ACMG-AMP guidelines for interpreting sequence variants and identification of areas for continued improvement.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: October 09, 2018
The progression of the ClinGen gene clinical validity classification over time.
Journal: Human mutation
Published: May 01, 2018
Expert specification of the ACMG/AMP variant interpretation guidelines for genetic hearing loss.
Journal: Human mutation
Published: May 01, 2018
Curating Clinically Relevant Transcripts for the Interpretation of Sequence Variants.
Journal: The Journal of molecular diagnostics : JMD
Published: March 04, 2018
ClinVar Miner: Demonstrating utility of a Web-based tool for viewing and filtering ClinVar data.
Journal: Human mutation
Published: February 08, 2018
Reclassification of the BRAF p.Ile208Val variant by case-level data sharing.
Journal: Cold Spring Harbor molecular case studies
Published: January 30, 2018
Showing 1-10 of 10
Last Updated: 09/26/2026