Submissions for variant NM_001849.4(COL6A2):c.2980G>A (p.Ala994Thr)

gnomAD frequency: 0.00474  dbSNP: rs117931394

Total submissions: 11

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000116794	SCV000228613	benign	not specified	2015-03-31	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV000116794	SCV000308308	likely benign	not specified		criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000281717	SCV000436826	benign	Collagen 6-related myopathy	2016-06-14	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000339033	SCV000436827	benign	Myosclerosis	2016-06-14	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000290682	SCV000483965	likely benign	Glutamate formiminotransferase deficiency	2016-06-14	criteria provided, single submitter	clinical testing
GeneDx	RCV000116794	SCV000519953	benign	not specified	2016-06-10	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.
Athena Diagnostics	RCV000116794	SCV000613013	benign	not specified	2016-12-09	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000557640	SCV000657191	benign	Bethlem myopathy 1A	2024-01-26	criteria provided, single submitter	clinical testing
Fulgent Genetics, Fulgent Genetics	RCV002498506	SCV002804500	likely benign	Bethlem myopathy 1A; Ullrich congenital muscular dystrophy 1A; Myosclerosis	2022-02-25	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV004703382	SCV005207710	likely benign	not provided		criteria provided, single submitter	not provided
Genetic Services Laboratory, University of Chicago	RCV000116794	SCV000150818	likely benign	not specified		no assertion criteria provided	clinical testing	Likely benign based on allele frequency in 1000 Genomes Project or ESP global frequency and its presence in a patient with a rare or unrelated disease phenotype. NOT Sanger confirmed.