ClinVar Miner

Submissions for variant NM_000276.4(OCRL):c.1244+1G>A

dbSNP: rs1936163310
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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 RCV001234126 SCV001406755 pathogenic Lowe syndrome 2021-08-25 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002504318 SCV002815176 likely pathogenic Dent disease type 2; Lowe syndrome 2021-10-28 criteria provided, single submitter clinical testing

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