ClinVar Miner

Submissions for variant NM_001354604.2(MITF):c.1149C>T (p.His383=)

gnomAD frequency: 0.00001  dbSNP: rs748181332
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Sema4, Sema4 RCV002259211 SCV002536419 likely benign Hereditary cancer-predisposing syndrome 2021-06-28 criteria provided, single submitter curation
Labcorp Genetics (formerly Invitae), Labcorp RCV003094207 SCV003012687 likely benign Tietz syndrome; Waardenburg syndrome type 2A; Melanoma, cutaneous malignant, susceptibility to, 8 2024-01-26 criteria provided, single submitter clinical testing

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