ClinVar Miner

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

gnomAD frequency: 0.00248  dbSNP: rs61752971
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Total submissions: 10
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins NTD LLC (GA) 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 2020-10-25 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 Developmental cataract 2015-01-09 no assertion criteria provided research
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV001729379 SCV001977903 likely benign not provided no assertion criteria provided clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV001729379 SCV001978650 likely benign not provided no assertion criteria provided clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV001729379 SCV001979828 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000194322 SCV001980397 benign not specified no assertion criteria provided clinical testing

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