ClinVar Miner

Submissions for variant NM_000104.3(CYP1B1):c.685G>A (p.Glu229Lys) (rs57865060)

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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 RCV000175523 SCV000227016 other not provided 2014-08-11 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000355259 SCV000430281 likely benign Primary congenital glaucoma 2016-06-14 criteria provided, single submitter clinical testing
Department of Genetics,Sultan Qaboos University Hospital, Oman RCV000761427 SCV000891497 uncertain significance Glaucoma 3, primary congenital, A 2017-12-30 criteria provided, single submitter curation
Eye Genetics Research Group,Children's Medical Research Institute RCV000059338 SCV000087422 uncertain significance Congenital ocular coloboma 2012-03-30 no assertion criteria provided research

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