Submissions for variant NM_004369.4(COL6A3):c.958G>A (p.Ala320Thr)

gnomAD frequency: 0.00017  dbSNP: rs115819851

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000380084	SCV000333929	likely benign	not specified	2017-02-24	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000303951	SCV000428880	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.
Labcorp Genetics (formerly Invitae), Labcorp	RCV000543340	SCV000657459	likely benign	Bethlem myopathy 1A	2023-09-17	criteria provided, single submitter	clinical testing
Department of Neurology, Xijing Hospital, Fourth Military Medical University	RCV002295295	SCV002553244	uncertain significance	Dystonia 27	2022-03-01	criteria provided, single submitter	clinical testing
Fulgent Genetics, Fulgent Genetics	RCV002494822	SCV002798511	likely benign	Bethlem myopathy 1A; Ullrich congenital muscular dystrophy 1A; Dystonia 27	2021-10-14	criteria provided, single submitter	clinical testing