ClinVar Miner

Submissions for variant NM_001354604.2(MITF):c.*7C>G

dbSNP: rs1276461945
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV002287168 SCV002577297 uncertain significance not provided 2022-03-28 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); Located in a region that tolerates variation and lacks pathogenic variants; Has not been previously published as pathogenic or benign to our knowledge
PreventionGenetics, part of Exact Sciences RCV003896110 SCV004708917 likely benign MITF-related disorder 2020-12-22 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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