Submissions for variant NM_004369.4(COL6A3):c.3071-16G>A

gnomAD frequency: 0.01822  dbSNP: rs73998896

Total submissions: 9

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000080923	SCV000112830	benign	not specified	2012-11-05	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV000080923	SCV000310159	likely benign	not specified		criteria provided, single submitter	clinical testing
GeneDx	RCV000080923	SCV000519258	benign	not specified	2016-06-20	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	RCV002055183	SCV002406758	benign	Bethlem myopathy 1A	2024-01-26	criteria provided, single submitter	clinical testing
Fulgent Genetics, Fulgent Genetics	RCV002490706	SCV002797804	likely benign	Bethlem myopathy 1A; Ullrich congenital muscular dystrophy 1A; Dystonia 27	2021-08-06	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV001795129	SCV005261827	likely benign	not provided		criteria provided, single submitter	not provided
Clinical Genetics, Academic Medical Center	RCV000080923	SCV001922682	benign	not specified		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000080923	SCV001957126	benign	not specified		no assertion criteria provided	clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV001795129	SCV002035725	likely benign	not provided		no assertion criteria provided	clinical testing