ClinVar Miner

Submissions for variant NM_006941.4(SOX10):c.1155_1174dup (p.Phe392fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Department of Pediatrics, Division of Medical Genetics, Faculty of Medicine Ramathibodi Hospital, Mahidol University RCV001170066 SCV001245527 pathogenic Peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease 2020-05-02 no assertion criteria provided research 1. de novo occurrence. 2. The altered protein is predicted to a total loss of transactivation domain.

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