ClinVar Miner

Submissions for variant NM_001354604.2(MITF):c.528C>T (p.Ser176=)

dbSNP: rs1275245059
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001591485 SCV001815434 likely benign not provided 2020-12-28 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002573299 SCV003322903 likely benign Tietz syndrome; Waardenburg syndrome type 2A; Melanoma, cutaneous malignant, susceptibility to, 8 2022-05-21 criteria provided, single submitter clinical testing

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