ClinVar Miner

Submissions for variant NM_001354604.2(MITF):c.513G>A (p.Pro171=)

gnomAD frequency: 0.00003  dbSNP: rs774998383
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001553188 SCV001774009 likely benign not provided 2020-06-15 criteria provided, single submitter clinical testing
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital RCV002268516 SCV002550859 likely benign not specified 2023-08-15 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002568345 SCV003018376 likely benign Tietz syndrome; Waardenburg syndrome type 2A; Melanoma, cutaneous malignant, susceptibility to, 8 2024-01-15 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004746422 SCV005352933 likely benign MITF-related disorder 2024-04-05 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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