ClinVar Miner

Submissions for variant NM_000136.3(FANCC):c.1170C>G (p.Pro390=)

dbSNP: rs878853668
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000234196 SCV000283581 likely benign Fanconi anemia 2023-12-29 criteria provided, single submitter clinical testing
Ambry Genetics RCV001010120 SCV001170269 likely benign Hereditary cancer-predisposing syndrome 2018-08-13 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
GeneDx RCV001668390 SCV001890410 uncertain significance not provided 2022-08-02 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this variant does not alter splicing; Has not been previously published as pathogenic or benign to our knowledge
PreventionGenetics, part of Exact Sciences RCV003982972 SCV004797925 likely benign FANCC-related condition 2023-10-01 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).

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