ClinVar Miner

Submissions for variant NM_000136.3(FANCC):c.165+12A>G

gnomAD frequency: 0.00001  dbSNP: rs200547296
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000436875 SCV000529904 likely benign not specified 2017-04-07 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV001861595 SCV002119703 likely benign Fanconi anemia 2024-03-12 criteria provided, single submitter clinical testing

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