Submissions for variant NM_004369.4(COL6A3):c.1471G>C (p.Asp491His)

gnomAD frequency: 0.00503  dbSNP: rs112010940

Total submissions: 11

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000080912	SCV000112819	benign	not specified	2012-11-05	criteria provided, single submitter	clinical testing
Genetic Services Laboratory, University of Chicago	RCV000080912	SCV000247079	benign	not specified	2016-05-05	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV000080912	SCV000310143	benign	not specified	2016-02-09	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000358271	SCV000428867	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	RCV000080912	SCV000516947	benign	not specified	2016-05-11	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	RCV000537530	SCV000657249	benign	Bethlem myopathy 1A	2025-01-20	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV001572856	SCV002544233	benign	not provided	2024-07-01	criteria provided, single submitter	clinical testing	COL6A3: BP4, BS1, BS2
Breakthrough Genomics, Breakthrough Genomics	RCV001572856	SCV005246240	benign	not provided		criteria provided, single submitter	not provided
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV001572856	SCV001797865	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics, Academic Medical Center	RCV000080912	SCV001923844	benign	not specified		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV001572856	SCV001927853	likely benign	not provided		no assertion criteria provided	clinical testing