Submissions for variant NM_001008212.2(OPTN):c.102G>A (p.Thr34=)

gnomAD frequency: 0.19474  dbSNP: rs2234968

Total submissions: 11

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000082082	SCV000114021	benign	not specified	2013-09-10	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV000082082	SCV000305650	benign	not specified		criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000276775	SCV000361396	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	RCV000313201	SCV000361397	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.
Athena Diagnostics Inc	RCV000082082	SCV000614399	benign	not specified	2017-07-21	criteria provided, single submitter	clinical testing
Invitae	RCV001511961	SCV001719287	benign	Primary open angle glaucoma; Amyotrophic lateral sclerosis type 12; Glaucoma 1, open angle, E	2024-02-01	criteria provided, single submitter	clinical testing
GeneDx	RCV001682787	SCV001903167	benign	not provided	2015-03-03	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 19172505, 17122126, 28993189, 31198474, 17361544)
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000082082	SCV001744659	benign	not specified		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center	RCV000082082	SCV001808799	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics, Academic Medical Center	RCV000082082	SCV001921970	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000082082	SCV001966335	benign	not specified		no assertion criteria provided	clinical testing