ClinVar Miner

Submissions for variant NM_000136.3(FANCC):c.1161C>T (p.Cys387=) (rs548998258)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics,PreventionGenetics RCV000253445 SCV000302516 likely benign not specified criteria provided, single submitter clinical testing
GeneDx RCV000253445 SCV000524801 likely benign not specified 2016-11-11 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 RCV000473343 SCV000560627 likely benign Fanconi anemia 2019-12-31 criteria provided, single submitter clinical testing
Mendelics RCV000988204 SCV001137841 likely benign Fanconi anemia, complementation group A 2019-05-28 criteria provided, single submitter clinical testing
Ambry Genetics RCV001010048 SCV001170191 likely benign Hereditary cancer-predisposing syndrome 2019-05-13 criteria provided, single submitter clinical testing Rarity in general population databases (dbsnp, esp, 1000 genomes);Synonymous alterations with insufficient evidence to classify as benign

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