ClinVar Miner

Submissions for variant NM_006941.4(SOX10):c.386T>C (p.Leu129Pro)

dbSNP: rs1932462410
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Testing Center for Deafness, Department of Otolaryngology Head & Neck Surgery, Institute of Otolaryngology, Chinese PLA General Hospital RCV001290171 SCV001478228 likely pathogenic Waardenburg syndrome type 2E 2019-01-01 criteria provided, single submitter clinical testing

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