ClinVar Miner

Submissions for variant NM_000166.6(GJB1):c.467T>A (p.Leu156His)

dbSNP: rs104894818
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, University of Leipzig Medical Center RCV001253189 SCV001428782 likely pathogenic Charcot-Marie-Tooth disease X-linked dominant 1 2019-08-26 criteria provided, single submitter clinical testing This variant was identified as hemizygous

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