ClinVar Miner

Submissions for variant NM_000276.4(OCRL):c.2415C>T (p.Tyr805=)

gnomAD frequency: 0.00014  dbSNP: rs377180274
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001519067 SCV001727872 benign Lowe syndrome 2024-12-31 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV002292644 SCV002585144 likely benign not provided 2023-02-01 criteria provided, single submitter clinical testing OCRL: BP4, BP7, BS2
Fulgent Genetics, Fulgent Genetics RCV002501815 SCV002808016 likely benign Dent disease type 2; Lowe syndrome 2021-11-10 criteria provided, single submitter clinical testing

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