Submissions for variant NM_001849.4(COL6A2):c.1614C>T (p.Gly538=)

gnomAD frequency: 0.00185  dbSNP: rs147194375

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000333735	SCV000332042	likely benign	not specified	2015-07-09	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000338651	SCV000436701	likely benign	Myosclerosis	2016-06-14	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000399922	SCV000436702	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.
GeneDx	RCV001722385	SCV000533263	likely benign	not provided	2020-11-04	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000527980	SCV000657114	benign	Bethlem myopathy 1A	2025-01-22	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV001722385	SCV002064077	likely benign	not provided	2024-09-01	criteria provided, single submitter	clinical testing	COL6A2: BP4, BP7
Breakthrough Genomics, Breakthrough Genomics	RCV001722385	SCV005207690	likely benign	not provided		criteria provided, single submitter	not provided
PreventionGenetics, part of Exact Sciences	RCV004535256	SCV004745599	likely benign	COL6A2-related disorder	2019-02-28	no assertion criteria provided	clinical testing	This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).