ClinVar Miner

Submissions for variant NM_000276.4(OCRL):c.439+3A>G (rs61752971)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000194322 SCV000110352 likely benign not specified 2018-04-09 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000194322 SCV000248382 benign not specified 2016-11-22 criteria provided, single submitter clinical testing
Invitae RCV000990943 SCV000753974 benign Lowe syndrome 2019-12-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV000715989 SCV000846822 likely benign History of neurodevelopmental disorder 2017-09-29 criteria provided, single submitter clinical testing No disease association in small case-control study;Other data supporting benign classification
Mendelics RCV000990943 SCV001142014 benign Lowe syndrome 2019-05-28 criteria provided, single submitter clinical testing
Eye Genetics Research Group,Children's Medical Research Institute RCV000203379 SCV000256034 uncertain significance Congenital cataract 2015-01-09 no assertion criteria provided research

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