Submissions for variant NM_001849.4(COL6A2):c.2094G>A (p.Ala698=)

gnomAD frequency: 0.44458  dbSNP: rs13052956

Total submissions: 15

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000079869	SCV000111752	benign	not specified	2012-07-31	criteria provided, single submitter	clinical testing
Genetic Services Laboratory, University of Chicago	RCV000079869	SCV000150808	benign	not specified	2013-08-15	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV000079869	SCV000308282	benign	not specified		criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000267217	SCV000436737	benign	Collagen 6-related myopathy	2018-01-13	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.
Illumina Laboratory Services, Illumina	RCV000327020	SCV000436738	benign	Myosclerosis	2016-06-14	criteria provided, single submitter	clinical testing
Athena Diagnostics	RCV000710892	SCV000841200	benign	not provided	2017-09-13	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV001520876	SCV001730089	benign	Bethlem myopathy 1A	2025-02-03	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000327020	SCV001875889	benign	Myosclerosis	2021-07-30	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001520876	SCV001875900	benign	Bethlem myopathy 1A	2021-07-30	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001664321	SCV001875911	benign	Ullrich congenital muscular dystrophy 1A	2021-07-30	criteria provided, single submitter	clinical testing
GeneDx	RCV000710892	SCV001943580	benign	not provided	2015-03-03	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV000710892	SCV005277992	benign	not provided		criteria provided, single submitter	not provided
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000079869	SCV001740469	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics, Academic Medical Center	RCV000079869	SCV001918562	benign	not specified		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000079869	SCV001956791	benign	not specified		no assertion criteria provided	clinical testing