ClinVar Miner

Submissions for variant NM_000245.4(MET):c.2118T>C (p.Ile706=)

gnomAD frequency: 0.00001  dbSNP: rs958023403
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000870309 SCV001011800 likely benign Renal cell carcinoma 2023-12-13 criteria provided, single submitter clinical testing
Ambry Genetics RCV002416045 SCV002726023 likely benign Hereditary cancer-predisposing syndrome 2021-07-07 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
GeneDx RCV002539072 SCV003195080 uncertain significance not provided 2022-07-17 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this variant does not alter splicing; Has not been previously published as pathogenic or benign to our knowledge; This variant is associated with the following publications: (PMID: 19318576)

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