Submissions for variant NM_004369.4(COL6A3):c.2665C>T (p.Arg889Cys)

gnomAD frequency: 0.00001  dbSNP: rs201327438

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Illumina Laboratory Services, Illumina	RCV001141745	SCV001302110	likely 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 likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.
Labcorp Genetics (formerly Invitae), Labcorp	RCV002557010	SCV002957334	benign	Bethlem myopathy 1A	2023-10-29	criteria provided, single submitter	clinical testing
Genetics and Molecular Pathology, SA Pathology	RCV002557010	SCV004175308	uncertain significance	Bethlem myopathy 1A	2021-04-28	criteria provided, single submitter	clinical testing
Mayo Clinic Laboratories, Mayo Clinic	RCV003480972	SCV004226033	uncertain significance	not provided	2022-09-30	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV003480972	SCV005261829	likely benign	not provided		criteria provided, single submitter	not provided