Submissions for variant NM_001849.4(COL6A2):c.2422+1G>A

dbSNP: rs113828929

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000332897	SCV000330629	pathogenic	not provided	2019-11-25	criteria provided, single submitter	clinical testing	Canonical splice site variant in a gene for which loss-of-function is a known mechanism of disease; Not observed at a significant frequency in large population cohorts (Lek et al., 2016); This variant is associated with the following publications: (PMID: 21035572, 28600779, 31130284, 32552793)
Baylor Genetics	RCV000985002	SCV001522398	pathogenic	Ullrich congenital muscular dystrophy 1A	2020-06-03	criteria provided, single submitter	clinical testing	This variant was determined to be pathogenic according to ACMG Guidelines, 2015 [PMID:25741868].
Revvity Omics, Revvity	RCV000332897	SCV002019669	pathogenic	not provided	2021-10-21	criteria provided, single submitter	clinical testing
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City	RCV000985002	SCV001132931	pathogenic	Ullrich congenital muscular dystrophy 1A	2019-08-25	no assertion criteria provided	clinical testing
Clinical Laboratory Sciences Program (CLSP), King Saud bin Abdulaziz University for Health Sciences (KSAU-HS)	RCV003326395	SCV003927810	pathogenic	Bethlem myopathy 1A	2023-04-01	no assertion criteria provided	clinical testing