ClinVar Miner

Submissions for variant NM_001354604.2(MITF):c.808C>T (p.Leu270=)

dbSNP: rs1439150504
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, University of Leipzig Medical Center RCV001253716 SCV001429568 pathogenic Waardenburg syndrome type 2A 2018-01-19 criteria provided, single submitter clinical testing

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