ClinVar Miner

Submissions for variant NM_000136.3(FANCC):c.906C>G (p.Leu302=)

gnomAD frequency: 0.00003  dbSNP: rs766079351
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000430981 SCV000512971 likely benign not specified 2018-01-30 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.
Invitae RCV000471086 SCV000560621 likely benign Fanconi anemia 2024-01-30 criteria provided, single submitter clinical testing
Ambry Genetics RCV001018770 SCV001180045 likely benign Hereditary cancer-predisposing syndrome 2018-06-11 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.
PreventionGenetics, part of Exact Sciences RCV003950350 SCV004763685 likely benign FANCC-related condition 2019-03-07 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).
Natera, Inc. RCV001274472 SCV001458695 likely benign Fanconi anemia complementation group C 2020-09-16 no assertion criteria provided clinical testing

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