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: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae 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

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