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

gnomAD frequency: 0.05969  dbSNP: rs11258194

Total submissions: 16

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000177328	SCV000229175	benign	not specified	2014-05-08	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV000177328	SCV000305653	benign	not specified		criteria provided, single submitter	clinical testing
Illumina Laboratory Services, 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 Laboratory Services, 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	RCV001705584	SCV000604575	benign	not provided	2023-11-29	criteria provided, single submitter	clinical testing
Mendelics	RCV000269750	SCV001137998	likely benign	Primary open angle glaucoma	2019-05-28	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV001512340	SCV001719737	benign	Primary open angle glaucoma; Amyotrophic lateral sclerosis type 12; Glaucoma 1, open angle, E	2024-01-31	criteria provided, single submitter	clinical testing
GeneDx	RCV001705584	SCV001893088	benign	not provided	2018-09-12	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 16358725, 17361544, 31198474, 31182772, 17293779, 28430856, 26376340, 25681989, 15226658, 11834836, 19172505, 17122126, 23357852)
Fulgent Genetics, Fulgent Genetics	RCV002490331	SCV002800205	benign	Primary open angle glaucoma; Glaucoma, normal tension, susceptibility to; Amyotrophic lateral sclerosis type 12	2022-02-25	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV001705584	SCV005226930	likely benign	not provided		criteria provided, single submitter	not provided
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
Genome Diagnostics Laboratory, Amsterdam University Medical Center	RCV000177328	SCV001808244	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics, Academic Medical Center	RCV001705584	SCV001922414	likely benign	not provided		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000177328	SCV001929934	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000177328	SCV001965788	benign	not specified		no assertion criteria provided	clinical testing