ClinVar Miner

Submissions for variant NM_001354604.2(MITF):c.355-8A>G

gnomAD frequency: 0.00001  dbSNP: rs876657867
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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 RCV000219040 SCV000271979 uncertain significance not specified 2015-08-18 criteria provided, single submitter clinical testing The c.355-8A>G variant in MITF has not been previously reported in individuals w ith hearing loss or in large population studies. This variant is located in the 3' splice region. Computational tools do not suggest an impact to splicing. Howe ver, this information is not predictive enough to rule out pathogenicity. In sum mary, the clinical significance of the c.355-8A>G variant is uncertain.
Labcorp Genetics (formerly Invitae), Labcorp RCV003765393 SCV004585184 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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