ClinVar Miner

Submissions for variant NM_000136.3(FANCC):c.783A>T (p.Leu261=)

gnomAD frequency: 0.00002  dbSNP: rs1060504646
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001447466 SCV001650531 likely benign Fanconi anemia 2022-10-26 criteria provided, single submitter clinical testing
Ambry Genetics RCV003365401 SCV004056764 likely benign Hereditary cancer-predisposing syndrome 2023-07-23 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.
CeGaT Center for Human Genetics Tuebingen RCV003434233 SCV004160162 likely benign not provided 2022-04-01 criteria provided, single submitter clinical testing FANCC: BP4, BP7

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