Submissions for variant NM_001849.4(COL6A2):c.1196G>A (p.Ser399Asn)

gnomAD frequency: 0.74122  dbSNP: rs2839110

Total submissions: 14

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000079842	SCV000111725	benign	not specified	2012-07-31	criteria provided, single submitter	clinical testing
Genetic Services Laboratory, University of Chicago	RCV000079842	SCV000150801	benign	not specified	2013-08-15	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV000079842	SCV000308252	benign	not specified		criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000323060	SCV000436675	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	RCV000382221	SCV000436676	benign	Myosclerosis	2016-06-14	criteria provided, single submitter	clinical testing
GeneDx	RCV000079842	SCV000512730	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.
Labcorp Genetics (formerly Invitae), Labcorp	RCV001516828	SCV001725182	benign	Bethlem myopathy 1A	2024-02-01	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000382221	SCV001875701	benign	Myosclerosis	2021-07-30	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001516828	SCV001875712	benign	Bethlem myopathy 1A	2021-07-30	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001664309	SCV001875723	benign	Ullrich congenital muscular dystrophy 1A	2021-07-30	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV004713224	SCV005276333	benign	not provided		criteria provided, single submitter	not provided
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000079842	SCV001742117	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics, Academic Medical Center	RCV000079842	SCV001918986	benign	not specified		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000079842	SCV001952518	benign	not specified		no assertion criteria provided	clinical testing