Submissions for variant NM_001849.4(COL6A2):c.2331C>T (p.Cys777=)

gnomAD frequency: 0.00015  dbSNP: rs181711180

Total submissions: 10

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Illumina Laboratory Services, Illumina	RCV000389050	SCV000436759	likely benign	Myosclerosis	2016-06-14	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000294767	SCV000436760	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	RCV001702619	SCV000527228	likely benign	not provided	2019-11-15	criteria provided, single submitter	clinical testing
Eurofins Ntd Llc (ga)	RCV000439670	SCV000701436	benign	not specified	2016-12-08	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV001511368	SCV001718600	benign	Bethlem myopathy 1A	2024-12-20	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV001702619	SCV004149944	likely benign	not provided	2022-12-01	criteria provided, single submitter	clinical testing	COL6A2: BP4, BP7, BS2
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV001702619	SCV001927260	likely benign	not provided		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000439670	SCV001958105	benign	not specified		no assertion criteria provided	clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV001702619	SCV002037084	likely benign	not provided		no assertion criteria provided	clinical testing
PreventionGenetics, part of Exact Sciences	RCV004530380	SCV004719276	likely benign	COL6A2-related disorder	2022-09-20	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).