ClinVar Miner

Submissions for variant NM_000166.6(GJB1):c.462T>C (p.Tyr154=)

gnomAD frequency: 0.00001  dbSNP: rs879254098
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Molecular Genetics Laboratory, London Health Sciences Centre RCV000790235 SCV001337288 likely benign Charcot-Marie-Tooth disease criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002067389 SCV002395937 likely benign Charcot-Marie-Tooth Neuropathy X 2023-03-23 criteria provided, single submitter clinical testing
Inherited Neuropathy Consortium RCV000790235 SCV000929628 uncertain significance Charcot-Marie-Tooth disease no assertion criteria provided literature only

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