Submissions for variant NM_004369.4(COL6A3):c.1313-17A>G

gnomAD frequency: 0.02624  dbSNP: rs7579816

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000080910	SCV000112817	benign	not specified	2012-11-05	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV000080910	SCV000310141	likely benign	not specified		criteria provided, single submitter	clinical testing
GeneDx	RCV000080910	SCV000519257	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	RCV002055182	SCV002405044	benign	Bethlem myopathy 1A	2024-01-26	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV004710482	SCV005261840	likely benign	not provided		criteria provided, single submitter	not provided
Clinical Genetics, Academic Medical Center	RCV000080910	SCV001925194	benign	not specified		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000080910	SCV001957751	benign	not specified		no assertion criteria provided	clinical testing