ClinVar Miner

Submissions for variant NM_018718.2(CEP41):c.718T>G (p.Cys240Gly) (rs113941736)

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Total submissions: 3
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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 RCV000514927 SCV000609553 likely benign not provided 2017-03-10 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000116677 SCV000150641 benign not specified 2015-01-08 criteria provided, single submitter clinical testing
Invitae RCV000650029 SCV000771866 benign Joubert syndrome 15 2017-09-20 criteria provided, single submitter clinical testing

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