ClinVar Miner

Submissions for variant NM_001354604.2(MITF):c.1071C>T (p.Ser357=)

gnomAD frequency: 0.00003  dbSNP: rs149086403
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ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001550511 SCV001770846 likely benign not provided 2020-01-14 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003771684 SCV004583795 likely benign Tietz syndrome; Waardenburg syndrome type 2A; Melanoma, cutaneous malignant, susceptibility to, 8 2024-01-19 criteria provided, single submitter clinical testing

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