ClinVar Miner

Submissions for variant NM_000276.4(OCRL):c.39+10G>A

gnomAD frequency: 0.00132  dbSNP: rs765141317
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000173095 SCV000224179 uncertain significance not provided 2015-02-11 criteria provided, single submitter clinical testing
Invitae RCV002054037 SCV002403087 benign Lowe syndrome 2024-01-29 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003947458 SCV004763871 benign OCRL-related condition 2022-02-17 criteria provided, single submitter clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
Genetic Services Laboratory, University of Chicago RCV003150965 SCV003839801 likely benign not specified 2022-04-20 no assertion criteria provided clinical testing

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