ClinVar Miner

Submissions for variant NM_006941.4(SOX10):c.487C>T (p.Gln163Ter)

dbSNP: rs1569169289
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare RCV000735663 SCV000863804 pathogenic Waardenburg syndrome type 2E 2018-01-17 no assertion criteria provided clinical testing

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