ClinVar Miner

Submissions for variant NM_000245.4(MET):c.2102+7T>C

gnomAD frequency: 0.00001  dbSNP: rs1584941903
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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 RCV001391321 SCV001011786 likely benign Renal cell carcinoma 2024-12-26 criteria provided, single submitter clinical testing
Mendelics RCV004702488 SCV001137455 likely benign Hereditary cancer 2024-09-11 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following: it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease, and/or has normal protein function, and/or has lack of segregation with disease, and/or has been detected in co-occurrence with known pathogenic variant, and/or has lack of disease association in case-control studies, and/or is located in a region inconsistent with a known cause of pathogenicity.
Myriad Genetics, Inc. RCV005249204 SCV005896471 likely benign Papillary renal cell carcinoma type 1 2024-11-08 criteria provided, single submitter clinical testing This variant is considered likely benign. This variant is intronic and is not expected to impact mRNA splicing.

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