ClinVar Miner

Submissions for variant NM_000276.4(OCRL):c.115T>C (p.Tyr39His)

gnomAD frequency: 0.00001  dbSNP: rs756670728
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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 RCV001908450 SCV002157883 likely benign Lowe syndrome 2023-11-27 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002506965 SCV002806156 uncertain significance Dent disease type 2; Lowe syndrome 2021-11-08 criteria provided, single submitter clinical testing

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