ClinVar Miner

Submissions for variant NM_000104.3(CYP1B1):c.155C>T (p.Pro52Leu) (rs201824781)

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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 RCV000349391 SCV000339659 uncertain significance not provided 2016-03-09 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV001139674 SCV001299850 uncertain significance 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. However, the evidence from the literature, in combination with allele frequency data from public databases where available, was not sufficient to rule this variant in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Illumina Clinical Services Laboratory,Illumina RCV001139675 SCV001299851 uncertain significance Irido-corneo-trabecular dysgenesis 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). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
OMIM RCV000023148 SCV000044439 pathogenic Glaucoma, primary open angle, juvenile-onset 2010-01-01 no assertion criteria provided literature only

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