ClinVar Miner

Submissions for variant NM_000136.3(FANCC):c.1073-4G>A (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 uncertain significance Hereditary cancer-predisposing syndrome 2017-05-31 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient evidence,In silico models in agreement (benign)
Counsyl RCV000666029 SCV000790262 uncertain significance Fanconi anemia, complementation group C 2017-03-09 criteria provided, single submitter clinical testing
GeneDx RCV000612291 SCV000721214 likely benign not specified 2017-07-13 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 RCV000231256 SCV000283580 likely benign Fanconi anemia 2017-05-02 criteria provided, single submitter clinical testing

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