ClinVar Miner

Submissions for variant NM_023073.3(CPLANE1):c.4310T>C (p.Ile1437Thr) (rs6859950)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000145364 SCV000719413 benign not specified 2017-05-11 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.
Genetic Services Laboratory, University of Chicago RCV000145364 SCV000192443 likely benign not specified no assertion criteria provided clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000330230 SCV000457399 likely benign Joubert syndrome 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000533691 SCV000647814 benign Orofaciodigital syndrome 6; Joubert syndrome 17 2017-10-12 criteria provided, single submitter clinical testing
PreventionGenetics RCV000145364 SCV000314189 benign not specified criteria provided, single submitter clinical testing

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