ClinVar Miner

Submissions for variant NM_000166.6(GJB1):c.627G>T (p.Val209=)

gnomAD frequency: 0.00005  dbSNP: rs376113695
Minimum review status: Collection method:
Minimum conflict level:
Total submissions: 5
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV005418372 SCV006086013 likely benign not specified 2025-05-06 criteria provided, single submitter clinical testing
Molecular Genetics Laboratory, London Health Sciences Centre RCV001174168 SCV001337290 likely benign Charcot-Marie-Tooth disease criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000863448 SCV001004110 benign Charcot-Marie-Tooth Neuropathy X 2025-01-26 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004754585 SCV005359313 likely benign GJB1-related disorder 2024-04-03 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
Natera, Inc. RCV001174168 SCV001453015 likely benign Charcot-Marie-Tooth disease 2020-04-11 no assertion criteria provided clinical testing

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. The submitted information has not been verified. If you have questions about the information contained on this website, please see a health care professional.