Submissions for variant NM_004369.4(COL6A3):c.7995A>C (p.Ala2665=)

gnomAD frequency: 0.01815  dbSNP: rs80193928

Total submissions: 9

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000081004	SCV000112911	benign	not specified	2012-07-17	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV000081004	SCV000310230	benign	not specified	2016-04-01	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000405871	SCV000428733	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	RCV000081004	SCV000530021	benign	not specified	2016-08-16	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	RCV000556692	SCV000657417	benign	Bethlem myopathy 1A	2024-01-26	criteria provided, single submitter	clinical testing
Athena Diagnostics	RCV000081004	SCV001475619	benign	not specified	2019-10-03	criteria provided, single submitter	clinical testing
Genetic Services Laboratory, University of Chicago	RCV000081004	SCV000150859	likely benign	not specified		no assertion criteria provided	clinical testing	Likely benign based on allele frequency in 1000 Genomes Project or ESP global frequency and its presence in a patient with a rare or unrelated disease phenotype. NOT Sanger confirmed.
Clinical Genetics, Academic Medical Center	RCV000081004	SCV002034703	benign	not specified		no assertion criteria provided	clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV001795135	SCV002036661	likely benign	not provided		no assertion criteria provided	clinical testing