ClinVar Miner

Submissions for variant NM_000136.3(FANCC):c.1073-4G>A

gnomAD frequency: 0.00004  dbSNP: rs147695697
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000562007 SCV000673304 likely benign Hereditary cancer-predisposing syndrome 2023-03-09 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.
GeneDx RCV000231256 SCV000721214 likely benign not provided 2019-03-19 criteria provided, single submitter clinical testing
Counsyl RCV000666029 SCV000790262 uncertain significance Fanconi anemia complementation group C 2017-03-09 criteria provided, single submitter clinical testing
Invitae RCV001467053 SCV001671070 likely benign Fanconi anemia 2022-08-25 criteria provided, single submitter clinical testing

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