ClinVar Miner

Submissions for variant NM_000276.4(OCRL):c.780_781insACT (p.Pro260_Trp261insThr)

dbSNP: rs1569459167
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000735076 SCV000863270 uncertain significance not provided 2018-08-31 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV005047011 SCV005683246 uncertain significance Dent disease type 2; Lowe syndrome 2024-05-31 criteria provided, single submitter clinical testing

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