ClinVar Miner

Submissions for variant NM_000276.4(OCRL):c.41C>T (p.Thr14Ile) (rs61752970)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000117867 SCV000152138 benign not specified 2016-07-12 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000117867 SCV000227083 likely benign not specified 2014-08-11 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000117867 SCV000303439 likely benign not specified criteria provided, single submitter clinical testing
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000514122 SCV000610418 likely benign not provided 2017-05-15 criteria provided, single submitter clinical testing
Invitae RCV001083615 SCV000629013 benign Lowe syndrome 2019-12-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV000715851 SCV000846682 benign History of neurodevelopmental disorder 2017-01-16 criteria provided, single submitter clinical testing Total internal frequency is >=1.3%;In silico models in agreement (benign);General population or subpopulation frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance

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