ClinVar Miner

Submissions for variant NM_000245.4(MET):c.2365-11T>A

dbSNP: rs1367439751
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001766072 SCV002007863 uncertain significance not provided 2021-01-18 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; Not observed in large population cohorts (Lek 2016); In silico analysis supports a deleterious effect on splicing
Labcorp Genetics (formerly Invitae), Labcorp RCV002544170 SCV003243319 likely benign Renal cell carcinoma 2024-12-24 criteria provided, single submitter clinical testing

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