ClinVar Miner

Submissions for variant NM_000166.6(GJB1):c.50C>G (p.Ser17Cys)

dbSNP: rs1555937009
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Department of Human Genetics, University Hospital Magdeburg RCV000512762 SCV000608286 likely pathogenic Charcot-Marie-Tooth disease 2017-06-20 criteria provided, single submitter clinical testing Two affected brothers
Inherited Neuropathy Consortium RCV000512762 SCV000928615 uncertain significance Charcot-Marie-Tooth disease no assertion criteria provided literature only

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