ClinVar Miner

Submissions for variant NM_000136.3(FANCC):c.1594A>C (p.Arg532=)

gnomAD frequency: 0.00001  dbSNP: rs764649916
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000204505 SCV000261865 likely benign Fanconi anemia 2023-11-08 criteria provided, single submitter clinical testing
Ambry Genetics RCV002399766 SCV002705759 likely benign Hereditary cancer-predisposing syndrome 2019-09-21 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 RCV003236789 SCV003935377 uncertain significance not provided 2022-12-20 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

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