ClinVar Miner

Submissions for variant NM_000136.3(FANCC):c.345+4AG[2] (rs755657969)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001080936 SCV000283590 likely benign Fanconi anemia 2019-12-13 criteria provided, single submitter clinical testing
GeneDx RCV000487298 SCV000564974 benign not specified 2015-05-05 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.
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000727370 SCV000707951 uncertain significance not provided 2017-04-19 criteria provided, single submitter clinical testing
Mendelics RCV000988220 SCV001137857 uncertain significance Fanconi anemia, complementation group A 2019-05-28 criteria provided, single submitter clinical testing

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