ClinVar Miner

Submissions for variant NM_000136.3(FANCC):c.*7C>T

gnomAD frequency: 0.00004  dbSNP: rs372511678
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000433684 SCV000512974 benign not specified 2015-04-03 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.
Genetic Services Laboratory, University of Chicago RCV000433684 SCV000594677 uncertain significance not specified 2015-10-16 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003950351 SCV004763536 likely benign FANCC-related condition 2020-03-20 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
Natera, Inc. RCV001828402 SCV002081114 likely benign Fanconi anemia 2018-11-03 no assertion criteria provided clinical testing

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