ClinVar Miner

Submissions for variant NM_000136.3(FANCC):c.-48G>A

gnomAD frequency: 0.00001  dbSNP: rs1283535718
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000600703 SCV000719171 likely benign not specified 2017-05-05 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.
Invitae RCV000870387 SCV001011882 likely benign Fanconi anemia 2023-10-06 criteria provided, single submitter clinical testing

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