Submissions for variant NM_004369.4(COL6A3):c.2463T>C (p.Ser821=)

gnomAD frequency: 0.00267  dbSNP: rs115387170

Total submissions: 10

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
PreventionGenetics, part of Exact Sciences	RCV000247248	SCV000310154	benign	not specified		criteria provided, single submitter	clinical testing
Eurofins Ntd Llc (ga)	RCV000247248	SCV000332856	likely benign	not specified	2015-07-14	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000403582	SCV000428839	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	RCV001090755	SCV000527462	likely benign	not provided	2021-11-02	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 15689448)
Labcorp Genetics (formerly Invitae), Labcorp	RCV000531504	SCV000657269	benign	Bethlem myopathy 1A	2024-01-29	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV001090755	SCV001246462	likely benign	not provided	2024-02-01	criteria provided, single submitter	clinical testing	COL6A3: BP4, BP7, BS2
Fulgent Genetics, Fulgent Genetics	RCV002494741	SCV002803685	likely benign	Bethlem myopathy 1A; Ullrich congenital muscular dystrophy 1A; Dystonia 27	2021-08-11	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV001090755	SCV005261831	likely benign	not provided		criteria provided, single submitter	not provided
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV001090755	SCV002036483	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV001090755	SCV002037671	likely benign	not provided		no assertion criteria provided	clinical testing