ClinVar Miner

Submissions for variant NM_001354604.2(MITF):c.999A>G (p.Glu333=)

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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 RCV003779419 SCV004603799 likely benign Tietz syndrome; Waardenburg syndrome type 2A; Melanoma, cutaneous malignant, susceptibility to, 8 2024-09-10 criteria provided, single submitter clinical testing
Ambry Genetics RCV004943230 SCV005445014 likely benign Hereditary cancer-predisposing syndrome 2024-11-23 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.

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