ClinVar Miner

Submissions for variant NM_000276.4(OCRL):c.952C>T (p.Arg318Cys)

dbSNP: rs137853263
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000727111 SCV000705810 likely pathogenic not provided 2017-01-20 criteria provided, single submitter clinical testing
OMIM RCV000011608 SCV000031840 pathogenic Dent disease type 2 2021-08-06 no assertion criteria provided literature only
UniProtKB/Swiss-Prot RCV000059607 SCV000091142 not provided Lowe syndrome no assertion provided not provided
GeneReviews RCV000011608 SCV000243797 not provided Dent disease type 2 no assertion provided literature only

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