ClinVar Miner

Submissions for variant NM_000276.4(OCRL):c.19G>T (p.Val7Phe)

dbSNP: rs1935772672
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
New York Genome Center RCV004799360 SCV001431216 uncertain significance Lowe syndrome 2022-01-07 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV005040103 SCV005683229 uncertain significance Dent disease type 2; Lowe syndrome 2024-05-23 criteria provided, single submitter clinical testing

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