ClinVar Miner

Submissions for variant NM_000245.4(MET):c.617T>C (p.Phe206Ser)

gnomAD frequency: 0.00003  dbSNP: rs746295363
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001776321 SCV002012792 uncertain significance not provided 2019-06-28 criteria provided, single submitter clinical testing Not observed at a significant frequency in large population cohorts (Lek et al., 2016); In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Labcorp Genetics (formerly Invitae), Labcorp RCV001885127 SCV002308160 likely benign Renal cell carcinoma 2023-11-25 criteria provided, single submitter clinical testing
Ambry Genetics RCV002359250 SCV002654569 benign Hereditary cancer-predisposing syndrome 2023-09-03 criteria provided, single submitter clinical testing This alteration is classified as 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.
Laboratory of Molecular Epidemiology of Birth Defects, West China Second University Hospital, Sichuan University RCV003154195 SCV003843407 benign Ovarian cancer 2022-01-01 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV001776321 SCV005622936 uncertain significance not provided 2024-02-16 criteria provided, single submitter clinical testing

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