ClinVar Miner

Submissions for variant NM_000166.6(GJB1):c.783_784del (p.Ile262fs) (rs1602349955)

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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,Klinikum rechts der Isar RCV000995551 SCV001149785 pathogenic X-linked hereditary motor and sensory neuropathy 2020-01-17 criteria provided, single submitter clinical testing

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