ClinVar Miner

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

dbSNP: rs1555939439
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
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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

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