ClinVar Miner

Submissions for variant NM_001354604.2(MITF):c.881-6G>A

gnomAD frequency: 0.00016  dbSNP: rs752788538
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001585126 SCV001818447 uncertain significance not provided 2024-09-05 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; In silico analysis indicates that this variant does not alter splicing
Labcorp Genetics (formerly Invitae), Labcorp RCV002573331 SCV003495693 likely benign Tietz syndrome; Waardenburg syndrome type 2A; Melanoma, cutaneous malignant, susceptibility to, 8 2024-01-28 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003948627 SCV004768837 likely benign MITF-related disorder 2019-12-16 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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