Submissions for variant NM_004369.4(COL6A3):c.1478T>C (p.Val493Ala)

gnomAD frequency: 0.00030  dbSNP: rs116794756

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000178890	SCV000231064	likely benign	not specified	2014-07-21	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000267124	SCV000428865	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	RCV001753582	SCV000516166	benign	not provided	2021-07-09	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000557584	SCV000657251	benign	Bethlem myopathy 1A	2025-01-06	criteria provided, single submitter	clinical testing
Department of Neurology, Xijing Hospital, Fourth Military Medical University	RCV002298505	SCV002558734	uncertain significance	Dystonia 27	2022-03-01	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV001753582	SCV004147352	benign	not provided	2024-04-01	criteria provided, single submitter	clinical testing	COL6A3: BS1, BS2
Breakthrough Genomics, Breakthrough Genomics	RCV001753582	SCV005261839	likely benign	not provided		criteria provided, single submitter	not provided
PreventionGenetics, part of Exact Sciences	RCV004553011	SCV004772376	benign	COL6A3-related disorder	2020-01-27	no assertion criteria provided	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).