ClinVar Miner

Submissions for variant NM_000136.3(FANCC):c.882T>C (p.Val294=)

gnomAD frequency: 0.00001  dbSNP: rs750639831
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000540983 SCV000626257 likely benign Fanconi anemia 2024-02-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV001018383 SCV001179613 likely benign Hereditary cancer-predisposing syndrome 2019-01-31 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.
GeneDx RCV001653887 SCV001863991 benign not provided 2015-08-20 criteria provided, single submitter clinical testing
Natera, Inc. RCV000540983 SCV002081210 likely benign Fanconi anemia 2017-11-15 no assertion criteria provided clinical testing

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