ClinVar Miner

Submissions for variant NM_020937.4(FANCM):c.5717-4T>A

gnomAD frequency: 0.00001  dbSNP: rs781258517
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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 RCV001864287 SCV002119975 likely benign Fanconi anemia 2023-03-24 criteria provided, single submitter clinical testing
GeneDx RCV002265036 SCV002547056 uncertain significance not provided 2023-10-11 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
Genetic Services Laboratory, University of Chicago RCV003151355 SCV003839527 likely benign not specified 2022-07-18 no assertion criteria provided clinical testing

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