ClinVar Miner

Submissions for variant NM_000276.4(OCRL):c.821T>C (p.Ile274Thr)

dbSNP: rs137853829
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Fulgent Genetics, Fulgent Genetics RCV005042183 SCV005683247 likely pathogenic Dent disease type 2; Lowe syndrome 2024-01-29 criteria provided, single submitter clinical testing
UniProtKB/Swiss-Prot RCV000059605 SCV000091140 not provided Lowe syndrome no assertion provided not provided

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