ClinVar Miner

Submissions for variant NM_001008212.2(OPTN):c.293T>A (p.Met98Lys) (rs11258194)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000177328 SCV000229175 benign not specified 2014-05-08 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000177328 SCV000305653 benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000269750 SCV000361402 benign Primary open angle glaucoma 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 rule this variant out of causing disease. Therefore, this variant is classified as benign.
Illumina Clinical Services Laboratory,Illumina RCV000324769 SCV000361403 benign Amyotrophic lateral sclerosis type 12 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 was too high to be consistent with this variant causing disease. Therefore, this variant is classified as benign.
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000177328 SCV000604575 benign not specified 2018-09-13 criteria provided, single submitter clinical testing
Mendelics RCV000269750 SCV001137998 likely benign Primary open angle glaucoma 2019-05-28 criteria provided, single submitter clinical testing
OMIM RCV000007516 SCV000027717 risk factor Glaucoma, normal tension, susceptibility to 2002-02-08 no assertion criteria provided literature only
OMIM RCV000007517 SCV000027718 pathogenic Glaucoma 1, open angle, e 2002-02-08 no assertion criteria provided literature only

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