Submissions for variant NM_004369.4(COL6A3):c.4285+9G>A

gnomAD frequency: 0.00613  dbSNP: rs75780727

Total submissions: 10

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000080937	SCV000112844	benign	not specified	2012-11-05	criteria provided, single submitter	clinical testing
Genetic Services Laboratory, University of Chicago	RCV000080937	SCV000150839	benign	not specified	2015-09-19	criteria provided, single submitter	clinical testing
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics	RCV000224824	SCV000281288	benign	not provided	2015-06-05	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV004549512	SCV000310177	benign	COL6A3-related disorder	2020-03-27	criteria provided, single submitter	clinical testing	This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
Illumina Laboratory Services, Illumina	RCV000307885	SCV000428800	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	RCV000080937	SCV000523570	benign	not specified	2016-02-18	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.
Invitae	RCV000533723	SCV000657312	benign	Bethlem myopathy 1A	2024-01-31	criteria provided, single submitter	clinical testing
Athena Diagnostics	RCV000080937	SCV001475617	benign	not specified	2020-08-12	criteria provided, single submitter	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000224824	SCV002034206	likely benign	not provided		no assertion criteria provided	clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV000224824	SCV002035781	likely benign	not provided		no assertion criteria provided	clinical testing