Submissions for variant NM_001848.3(COL6A1):c.1095T>C (p.Gly365=)

gnomAD frequency: 0.60426  dbSNP: rs1980982

Total submissions: 13

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000079742	SCV000111625	benign	not specified	2014-10-14	criteria provided, single submitter	clinical testing
Genetic Services Laboratory, University of Chicago	RCV000079742	SCV000150776	benign	not specified	2013-08-15	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV000079742	SCV000308154	benign	not specified		criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000358186	SCV000436504	benign	Collagen 6-related myopathy	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.
GeneDx	RCV000079742	SCV000519116	benign	not specified	2016-01-05	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.
Athena Diagnostics	RCV000576447	SCV000677187	benign	Bethlem myopathy 1A; Ullrich congenital muscular dystrophy 1A	2017-05-31	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV001521147	SCV001730427	benign	Bethlem myopathy 1A	2024-02-01	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001521147	SCV001876773	benign	Bethlem myopathy 1A	2021-07-30	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001664284	SCV001876784	benign	Ullrich congenital muscular dystrophy 1A	2021-07-30	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV004713204	SCV005276138	benign	not provided		criteria provided, single submitter	not provided
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000079742	SCV001739605	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics, Academic Medical Center	RCV000079742	SCV001917520	benign	not specified		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000079742	SCV001952431	benign	not specified		no assertion criteria provided	clinical testing