ClinVar Miner

Submissions for variant NM_000166.6(GJB1):c.73C>T (p.Leu25Phe)

dbSNP: rs1602348662
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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 RCV000789266 SCV001336652 likely pathogenic Charcot-Marie-Tooth disease criteria provided, single submitter clinical testing
Institute of Human Genetics, University of Leipzig Medical Center RCV001253613 SCV001429434 uncertain significance Charcot-Marie-Tooth disease X-linked dominant 1 2018-11-12 criteria provided, single submitter clinical testing This variant was identified as hemizygous
Inherited Neuropathy Consortium RCV000789266 SCV000928619 uncertain significance Charcot-Marie-Tooth disease no assertion criteria provided literature only

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