Submissions for variant NM_130837.3(OPA1):c.1035+4T>C

gnomAD frequency: 0.88294  dbSNP: rs166850

Total submissions: 14

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000081773	SCV000170836	benign	not specified	2012-10-22	criteria provided, single submitter	clinical testing	This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Eurofins Ntd Llc (ga)	RCV000081773	SCV000203167	benign	not specified	2014-01-23	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV000081773	SCV000315377	benign	not specified		criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000576690	SCV000442622	benign	Autosomal dominant optic atrophy classic form	2018-01-12	criteria provided, single submitter	clinical testing	This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Athena Diagnostics	RCV000576690	SCV000677374	benign	Autosomal dominant optic atrophy classic form	2017-04-27	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000676694	SCV001156722	benign	not provided	2023-11-29	criteria provided, single submitter	clinical testing
Invitae	RCV000676694	SCV001718736	benign	not provided	2024-02-01	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001787898	SCV002029297	benign	Mitochondrial DNA depletion syndrome 14 (cardioencephalomyopathic type)	2021-09-05	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001787897	SCV002029298	benign	Abortive cerebellar ataxia	2021-09-05	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000576690	SCV002029299	benign	Autosomal dominant optic atrophy classic form	2021-09-05	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001787896	SCV002029300	benign	Optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy	2021-09-05	criteria provided, single submitter	clinical testing
Mayo Clinic Laboratories, Mayo Clinic	RCV000676694	SCV000802491	benign	not provided	2016-02-19	no assertion criteria provided	clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000081773	SCV001743935	benign	not specified		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000081773	SCV001957766	benign	not specified		no assertion criteria provided	clinical testing