ClinVar Miner

Submissions for variant NM_018062.3(FANCL):c.112C>T (p.Leu38Phe) (rs55849827)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000515051 SCV000610639 likely benign not provided 2017-05-31 criteria provided, single submitter clinical testing
GeneDx RCV000420428 SCV000521275 likely benign not specified 2016-02-08 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.
Genetic Services Laboratory, University of Chicago RCV000420428 SCV000594735 likely benign not specified 2015-08-28 criteria provided, single submitter clinical testing
Invitae RCV000206265 SCV000262269 benign Fanconi anemia 2018-01-05 criteria provided, single submitter clinical testing

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