ClinVar Miner

Submissions for variant NM_000245.4(MET):c.1393-6G>A

gnomAD frequency: 0.00001  dbSNP: rs202194405
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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 RCV001089397 SCV000294261 likely benign Renal cell carcinoma 2024-01-10 criteria provided, single submitter clinical testing
GeneDx RCV000827278 SCV000968914 likely benign not provided 2018-05-10 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Clinical Genetics, Academic Medical Center RCV001699248 SCV001922307 benign not specified no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000827278 SCV001969319 likely benign not provided no assertion criteria provided clinical testing

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