ClinVar Miner

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

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Total submissions: 6
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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 RCV000761427 SCV000430281 likely benign Glaucoma 3, primary congenital, A 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to determine this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
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
Mendelics RCV000986620 SCV001135662 uncertain significance Irido-corneo-trabecular dysgenesis 2019-05-28 criteria provided, single submitter clinical testing
Invitae RCV001513104 SCV001720644 benign Congenital glaucoma 2020-01-24 criteria provided, single submitter clinical testing
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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