ClinVar Miner

Submissions for variant NM_000245.4(MET):c.2658C>T (p.His886=)

gnomAD frequency: 0.00003  dbSNP: rs748950533
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001080569 SCV000253346 benign Renal cell carcinoma 2024-01-30 criteria provided, single submitter clinical testing
Ambry Genetics RCV000573771 SCV000664613 likely benign Hereditary cancer-predisposing syndrome 2015-06-06 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 RCV000835679 SCV000977484 likely benign not provided 2020-12-15 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV000573771 SCV002532131 likely benign Hereditary cancer-predisposing syndrome 2021-07-12 criteria provided, single submitter curation

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