ClinVar Miner

Submissions for variant NM_006941.3(SOX10):c.403A>C (p.Ser135Arg) (rs1555939415)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory of Human Genetics,Universidade de São Paulo RCV000626402 SCV000678737 likely pathogenic Waardenburg syndrome type 2A 2017-03-01 criteria provided, single submitter research

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