ClinVar Miner

Submissions for variant NM_000136.3(FANCC):c.993G>A (p.Lys331=)

gnomAD frequency: 0.00002  dbSNP: rs748582850
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000205627 SCV000260676 likely benign Fanconi anemia 2024-04-15 criteria provided, single submitter clinical testing
GeneDx RCV000608632 SCV000728401 likely benign not specified 2017-05-26 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 RCV001019916 SCV001181330 likely benign Hereditary cancer-predisposing syndrome 2019-02-11 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, 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.
Quest Diagnostics Nichols Institute San Juan Capistrano RCV003477690 SCV004218701 likely benign not provided 2023-01-31 criteria provided, single submitter clinical testing
Natera, Inc. RCV001274464 SCV001458687 likely benign Fanconi anemia complementation group C 2020-09-16 no assertion criteria provided clinical testing

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