ClinVar Miner

Submissions for variant NM_006941.4(SOX10):c.1352_1359dup (p.His454fs)

dbSNP: rs1601878540
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics RCV000993098 SCV001145834 likely pathogenic not provided 2019-07-26 criteria provided, single submitter clinical testing The variant results in a shift of the reading frame, and is therefore predicted to result in the loss of a functional protein. Not found in the total gnomAD dataset, and the data is high quality (0/267472 chr).
Genetic Testing Center for Deafness, Department of Otolaryngology Head & Neck Surgery, Institute of Otolaryngology, Chinese PLA General Hospital RCV001290181 SCV001478239 pathogenic Waardenburg syndrome type 2E 2019-01-01 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002481756 SCV002795019 likely pathogenic PCWH syndrome; Waardenburg syndrome type 2E; Waardenburg syndrome type 4C 2022-04-16 criteria provided, single submitter clinical testing

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