ClinVar Miner

Submissions for variant NM_000276.4(OCRL):c.2582-9G>A

gnomAD frequency: 0.00001  dbSNP: rs2071705
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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 RCV002066284 SCV002408976 benign Lowe syndrome 2024-01-29 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002502932 SCV002806554 benign Dent disease type 2; Lowe syndrome 2021-08-20 criteria provided, single submitter clinical testing

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