ClinVar Miner

Submissions for variant NM_000276.4(OCRL):c.912T>G (p.Gly304=)

gnomAD frequency: 0.00022  dbSNP: rs190659938
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002064698 SCV002446471 benign Lowe syndrome 2024-01-31 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002507519 SCV002808012 likely benign Dent disease type 2; Lowe syndrome 2021-11-04 criteria provided, single submitter clinical testing

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