ClinVar Miner

Submissions for variant NM_000136.3(FANCC):c.1353C>T (p.Gly451=)

gnomAD frequency: 0.00003  dbSNP: rs745338413
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000842237 SCV000984241 likely benign not provided 2018-04-12 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.
Ambry Genetics RCV001011092 SCV001171373 likely benign Hereditary cancer-predisposing syndrome 2019-07-16 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.
Invitae RCV001419732 SCV001621993 likely benign Fanconi anemia 2023-01-21 criteria provided, single submitter clinical testing

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