ClinVar Miner

Submissions for variant NM_000136.3(FANCC):c.166-5C>T (rs753820400)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000232327 SCV000283586 likely benign Fanconi anemia 2019-12-31 criteria provided, single submitter clinical testing
GeneDx RCV000425992 SCV000512962 likely benign not specified 2017-10-17 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.
Mendelics RCV000988222 SCV001137859 likely benign Fanconi anemia, complementation group A 2019-05-28 criteria provided, single submitter clinical testing
Ambry Genetics RCV001012621 SCV001173097 uncertain significance Hereditary cancer-predisposing syndrome 2018-09-27 criteria provided, single submitter clinical testing Insufficient evidence

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