ClinVar Miner

Submissions for variant NM_000245.4(MET):c.86C>T (p.Ala29Val)

gnomAD frequency: 0.00002  dbSNP: rs775439897
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV001018204 SCV001179406 benign Hereditary cancer-predisposing syndrome 2022-05-05 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV001316076 SCV001506678 likely benign Renal cell carcinoma 2024-01-21 criteria provided, single submitter clinical testing

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