ClinVar Miner

Submissions for variant NM_001354604.2(MITF):c.1443G>A (p.Leu481=)

gnomAD frequency: 0.00027  dbSNP: rs150213411
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001577209 SCV001804550 likely benign not provided 2020-10-19 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge
Labcorp Genetics (formerly Invitae), Labcorp RCV002568495 SCV003488804 benign Tietz syndrome; Waardenburg syndrome type 2A; Melanoma, cutaneous malignant, susceptibility to, 8 2024-01-05 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003910903 SCV004725119 likely benign MITF-related disorder 2021-12-22 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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