ClinVar Miner

Submissions for variant NM_000245.4(MET):c.3523-10T>C

dbSNP: rs2117059286
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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 RCV002186025 SCV002484990 likely benign Renal cell carcinoma 2024-05-22 criteria provided, single submitter clinical testing
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital RCV003493923 SCV004243324 likely benign not specified 2025-03-04 criteria provided, single submitter clinical testing
GeneDx RCV004779261 SCV005390840 uncertain significance not provided 2024-04-03 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
Myriad Genetics, Inc. RCV005248536 SCV005897920 likely benign Papillary renal cell carcinoma type 1 2024-11-13 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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