ClinVar Miner

Submissions for variant NM_000276.4(OCRL):c.284G>A (p.Arg95His)

gnomAD frequency: 0.00006  dbSNP: rs770375201
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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 RCV002123103 SCV002439482 benign Lowe syndrome 2024-01-18 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002486936 SCV002795351 likely benign Dent disease type 2; Lowe syndrome 2021-07-07 criteria provided, single submitter clinical testing

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