Submissions for variant NM_004369.4(COL6A3):c.9245C>G (p.Pro3082Arg)

gnomAD frequency: 0.00064  dbSNP: rs182976977

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000272249	SCV000333140	likely benign	not specified	2016-08-08	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000403938	SCV000428693	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	RCV001310783	SCV000525069	likely benign	not provided	2021-05-05	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 26004199, 26872670, 26991507, 30564623)
Labcorp Genetics (formerly Invitae), Labcorp	RCV000653631	SCV000775514	benign	Bethlem myopathy 1A	2024-01-18	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV001310783	SCV001500718	likely benign	not provided	2023-07-01	criteria provided, single submitter	clinical testing	COL6A3: BP4
Breakthrough Genomics, Breakthrough Genomics	RCV001310783	SCV005261779	likely benign	not provided		criteria provided, single submitter	not provided
OMIM	RCV000172850	SCV000223819	pathogenic	Dystonia 27	2015-06-04	no assertion criteria provided	literature only
PreventionGenetics, part of Exact Sciences	RCV004725024	SCV005337805	likely benign	COL6A3-related disorder	2024-06-11	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).