ClinVar Miner

Submissions for variant NM_006941.4(SOX10):c.1315_1329del (p.Ile439_Ser443del)

dbSNP: rs1569167515
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Hereditary Hearing Loss Research Unit, University of Madras RCV000761189 SCV000886896 pathogenic Waardenburg syndrome type 4A 2018-03-07 no assertion criteria provided research

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