ClinVar Miner

Submissions for variant NM_000166.6(GJB1):c.530T>C (p.Val177Ala)

dbSNP: rs1602349572
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues RCV004669115 SCV005094604 pathogenic Charcot-Marie-Tooth disease X-linked dominant 1 2024-07-09 criteria provided, single submitter clinical testing
Inherited Neuropathy Consortium RCV000789220 SCV000928572 uncertain significance Charcot-Marie-Tooth disease no assertion criteria provided literature only

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