ClinVar Miner

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

gnomAD frequency: 0.00005  dbSNP: rs376113695
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000863448 SCV001004110 benign Charcot-Marie-Tooth Neuropathy X 2024-01-31 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
Natera, Inc. RCV001174168 SCV001453015 likely benign Charcot-Marie-Tooth disease 2020-04-11 no assertion criteria provided 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).

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