Submissions for variant NM_004369.4(COL6A3):c.6157-16G>A

gnomAD frequency: 0.01524  dbSNP: rs112637114

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000080960	SCV000112867	benign	not specified	2013-08-12	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV000080960	SCV000310199	benign	not specified		criteria provided, single submitter	clinical testing
GeneDx	RCV000080960	SCV000529451	benign	not specified	2016-08-31	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.
Labcorp Genetics (formerly Invitae), Labcorp	RCV002055187	SCV002409498	benign	Bethlem myopathy 1A	2025-02-03	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV001795131	SCV005246215	benign	not provided		criteria provided, single submitter	not provided
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV001795131	SCV002035396	likely benign	not provided		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000080960	SCV002037220	benign	not specified		no assertion criteria provided	clinical testing