ClinVar Miner

Submissions for variant NM_000276.4(OCRL):c.152A>G (p.His51Arg)

gnomAD frequency: 0.00020  dbSNP: rs764804719
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Fulgent Genetics, Fulgent Genetics RCV002503162 SCV002810670 likely benign Dent disease type 2; Lowe syndrome 2021-08-23 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002539703 SCV002990746 benign Lowe syndrome 2024-10-17 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001727973 SCV004165536 likely benign not provided 2022-12-01 criteria provided, single submitter clinical testing OCRL: BS2
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV001702160 SCV001930596 benign not specified no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001727973 SCV001968530 likely benign not provided no assertion criteria provided clinical testing

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