ClinVar Miner

Submissions for variant NM_000166.6(GJB1):c.280C>T (p.His94Tyr)

dbSNP: rs1602349087
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001377073 SCV001574306 likely pathogenic Charcot-Marie-Tooth Neuropathy X 2021-08-31 criteria provided, single submitter clinical testing
Inherited Neuropathy Consortium RCV000789828 SCV000929212 uncertain significance Charcot-Marie-Tooth disease no assertion criteria provided literature only

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