Submissions for variant NM_001849.4(COL6A2):c.2160C>G (p.Arg720=)

gnomAD frequency: 0.01898  dbSNP: rs61735829

Total submissions: 12

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000079873	SCV000111756	benign	not specified	2012-11-16	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV000079873	SCV000308285	benign	not specified		criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000292788	SCV000436743	likely benign	Collagen 6-related myopathy	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 determine this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Illumina Laboratory Services, Illumina	RCV000352815	SCV000436744	likely benign	Myosclerosis	2016-06-14	criteria provided, single submitter	clinical testing
GeneDx	RCV000079873	SCV000523020	benign	not specified	2016-05-18	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	RCV001085011	SCV000657131	benign	Bethlem myopathy 1A	2025-01-29	criteria provided, single submitter	clinical testing
Athena Diagnostics	RCV000710894	SCV000841202	benign	not provided	2017-11-14	criteria provided, single submitter	clinical testing
Fulgent Genetics, Fulgent Genetics	RCV002490696	SCV002797455	likely benign	Bethlem myopathy 1A; Ullrich congenital muscular dystrophy 1A; Myosclerosis	2021-08-06	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV000710894	SCV005207696	likely benign	not provided		criteria provided, single submitter	not provided
Genetic Services Laboratory, University of Chicago	RCV000079873	SCV000150810	likely benign	not specified		no assertion criteria provided	clinical testing	Likely benign based on allele frequency in 1000 Genomes Project or ESP global frequency and its presence in a patient with a rare or unrelated disease phenotype. NOT Sanger confirmed.
Clinical Genetics, Academic Medical Center	RCV000079873	SCV002034611	benign	not specified		no assertion criteria provided	clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV000710894	SCV002036827	likely benign	not provided		no assertion criteria provided	clinical testing