Submissions for variant NM_004369.4(COL6A3):c.3129C>T (p.Gly1043=)

gnomAD frequency: 0.20507  dbSNP: rs12622093

Total submissions: 13

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000080926	SCV000112833	benign	not specified	2012-07-31	criteria provided, single submitter	clinical testing
Genetic Services Laboratory, University of Chicago	RCV000080926	SCV000150832	benign	not specified	2013-08-15	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV000080926	SCV000310161	benign	not specified		criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000289678	SCV000428831	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	RCV000080926	SCV000512738	benign	not specified	2016-01-26	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	RCV001519902	SCV001728862	benign	Bethlem myopathy 1A	2025-02-04	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001519902	SCV001876242	benign	Bethlem myopathy 1A	2021-07-30	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001664358	SCV001876243	benign	Dystonia 27	2021-07-30	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001664357	SCV001876244	benign	Ullrich congenital muscular dystrophy 1A	2021-07-30	criteria provided, single submitter	clinical testing
Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan	RCV000080926	SCV005091656	benign	not specified	2024-07-31	criteria provided, single submitter	clinical testing	This variant is classified as Benign based on local population frequency. This variant was detected in 44% of patients studied in a panel designed for Epileptic and Developmental Encephalopathy, Progressive Myoclonus Epilepsy and Abnormal Movements and Neurodegeneration with brain iron accumulation. Number of patients: 41. Only high quality variants are reported.
Breakthrough Genomics, Breakthrough Genomics	RCV004707922	SCV005246233	benign	not provided		criteria provided, single submitter	not provided
Clinical Genetics, Academic Medical Center	RCV000080926	SCV001924838	benign	not specified		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000080926	SCV001958776	benign	not specified		no assertion criteria provided	clinical testing