ClinVar Miner

Submissions for variant NM_000276.4(OCRL):c.952C>T (p.Arg318Cys) (rs137853263)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000727111 SCV000705810 likely pathogenic not provided 2017-01-20 criteria provided, single submitter clinical testing
GeneReviews RCV000011608 SCV000243797 likely pathogenic Dent disease 2 2014-09-25 no assertion criteria provided literature only
OMIM RCV000011608 SCV000031840 pathogenic Dent disease 2 2005-02-01 no assertion criteria provided literature only
UniProtKB/Swiss-Prot RCV000059607 SCV000091142 not provided Lowe syndrome no assertion provided not provided

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