ClinVar Miner

Submissions for variant NM_207352.4(CYP4V2):c.1198C>T (p.Arg400Cys) (rs138444697)

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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 RCV000368904 SCV000342751 uncertain significance not provided 2016-06-21 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000368904 SCV001250476 pathogenic not provided 2018-08-01 criteria provided, single submitter clinical testing
Institute of Medical Molecular Genetics, University of Zurich RCV000032530 SCV001548112 likely pathogenic Bietti crystalline corneoretinal dystrophy 2021-01-30 criteria provided, single submitter clinical testing
GeneReviews RCV000032530 SCV000056193 pathologic Bietti crystalline corneoretinal dystrophy 2012-04-12 no assertion criteria provided curation Converted during submission to Pathogenic.

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