ClinVar Miner

Submissions for variant NM_006941.4(SOX10):c.334A>G (p.Met112Val)

dbSNP: rs1555939439
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Human Genetics, Inc, Center for Human Genetics, Inc RCV000660278 SCV000782303 uncertain significance Waardenburg syndrome type 4C 2016-11-01 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000765648 SCV000896977 uncertain significance PCWH syndrome; Waardenburg syndrome type 2E; Waardenburg syndrome type 4C 2018-10-31 criteria provided, single submitter clinical testing
Institute of Rare Diseases, West China Hospital, Sichuan University RCV000660278 SCV005687424 pathogenic Waardenburg syndrome type 4C 2025-01-09 criteria provided, single submitter research PM1;PS2;PM5;PP4;PM2_Supporting;PP3

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