ClinVar Miner

Submissions for variant NM_000136.3(FANCC):c.1329+212C>T

gnomAD frequency: 0.00061  dbSNP: rs41281200
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000124972 SCV000168412 benign not specified 2014-01-06 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.
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden RCV003237735 SCV002010160 uncertain significance not provided 2021-11-03 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004748595 SCV005347336 likely benign FANCC-related disorder 2024-08-14 no assertion criteria provided 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).

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