ClinVar Miner

Submissions for variant NM_001174150.2(ARL13B):c.105C>T (p.Thr35=) (rs146396078)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center RCV000206811 SCV000745223 likely benign Joubert syndrome 8 2017-06-28 criteria provided, single submitter clinical testing
GeneDx RCV000116418 SCV000516474 benign not specified 2016-05-06 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 RCV000116418 SCV000150342 benign not specified 2015-05-29 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory,University Medical Center Utrecht RCV000206811 SCV000743809 benign Joubert syndrome 8 2014-12-01 criteria provided, single submitter clinical testing
Invitae RCV000206811 SCV000260432 benign Joubert syndrome 8 2017-08-22 criteria provided, single submitter clinical testing
PreventionGenetics RCV000116418 SCV000316770 likely benign not specified criteria provided, single submitter clinical testing

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