ClinVar Miner

Submissions for variant NM_006941.4(SOX10):c.426G>T (p.Trp142Cys)

dbSNP: rs1555939403
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Hearing and Balance Clinic, First Affliiated Hospital of Kunming Medical University RCV000985243 SCV001132683 pathogenic Waardenburg syndrome type 2E 2019-12-26 no assertion criteria provided clinical testing The proband was a 4-year-old boy who suffered from congenital bilateral profound hearing loss. He was delivered full-term with a bilateral blue iris and normal inner canthi.

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