ClinVar Miner

Submissions for variant NM_001354604.2(MITF):c.794A>G (p.Tyr265Cys)

dbSNP: rs1057518765
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Centre for Mendelian Genomics, University Medical Centre Ljubljana RCV000415280 SCV000492542 likely pathogenic Waardenburg syndrome 2016-03-24 no assertion criteria provided clinical testing

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