ClinVar Miner

Submissions for variant NM_001354604.2(MITF):c.1476C>T (p.Pro492=)

gnomAD frequency: 0.00001  dbSNP: rs745749254
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000611529 SCV000731462 likely benign not specified 2017-02-02 criteria provided, single submitter clinical testing p.Pro486Pro in exon 10 of MITF: This variant is not expected to have clinical si gnificance because it does not alter an amino acid residue and is not located wi thin the splice consensus sequence. It has been identified in 1/66620 European c hromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute .org; dbSNP rs745749254).
Labcorp Genetics (formerly Invitae), Labcorp RCV003767744 SCV004585349 likely benign Tietz syndrome; Waardenburg syndrome type 2A; Melanoma, cutaneous malignant, susceptibility to, 8 2024-01-31 criteria provided, single submitter clinical testing

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