Submissions for variant NM_001848.3(COL6A1):c.859-19A>G

gnomAD frequency: 0.86865  dbSNP: rs2277814

Total submissions: 10

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000079830	SCV000111713	benign	not specified	2014-10-14	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV000079830	SCV000308237	benign	not specified		criteria provided, single submitter	clinical testing
GeneDx	RCV000079830	SCV000512726	benign	not specified	2016-01-22	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.
Genome-Nilou Lab	RCV001664302	SCV001876728	benign	Bethlem myopathy 1A	2021-07-30	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001664303	SCV001876739	benign	Ullrich congenital muscular dystrophy 1A	2021-07-30	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV001664302	SCV002405791	benign	Bethlem myopathy 1A	2025-02-03	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV004713222	SCV005276038	benign	not provided		criteria provided, single submitter	not provided
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000079830	SCV001741380	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics, Academic Medical Center	RCV000079830	SCV001922847	benign	not specified		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000079830	SCV001956924	benign	not specified		no assertion criteria provided	clinical testing