ClinVar Miner

Submissions for variant NM_000136.3(FANCC):c.250+16G>A

gnomAD frequency: 0.00011  dbSNP: rs371993188
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000434217 SCV000524007 likely benign not specified 2017-03-16 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 RCV002065061 SCV002463101 likely benign Fanconi anemia 2024-05-18 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002502531 SCV002808849 likely benign Fanconi anemia complementation group C 2022-03-12 criteria provided, single submitter clinical testing

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