ClinVar Miner

Submissions for variant NM_001354604.2(MITF):c.1353G>A (p.Thr451=)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002619373 SCV003498194 likely benign Tietz syndrome; Waardenburg syndrome type 2A; Melanoma, cutaneous malignant, susceptibility to, 8 2024-01-28 criteria provided, single submitter clinical testing
GeneDx RCV003227084 SCV003923819 uncertain significance not provided 2024-05-23 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; In silico analysis suggests this variant may impact gene splicing. In the absence of RNA/functional studies, the actual effect of this sequence change is unknown.

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