ClinVar Miner

Submissions for variant NM_000136.3(FANCC):c.1329+111C>T

gnomAD frequency: 0.00056  dbSNP: rs527823099
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000124970 SCV000168410 benign not specified 2014-01-08 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.
Natera, Inc. RCV001831921 SCV002081158 likely benign Fanconi anemia 2018-04-25 no assertion criteria provided clinical testing
PreventionGenetics, part of Exact Sciences RCV003952650 SCV004777886 likely benign FANCC-related disorder 2021-05-21 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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