Submissions for variant NM_004369.4(COL6A3):c.4285+17G>A

gnomAD frequency: 0.00530  dbSNP: rs3791000

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000080936	SCV000112843	benign	not specified	2012-11-05	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV000080936	SCV000310176	likely benign	not specified		criteria provided, single submitter	clinical testing
GeneDx	RCV000080936	SCV000526302	benign	not specified	2016-08-08	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	RCV002055184	SCV002355844	benign	Bethlem myopathy 1A	2025-02-03	criteria provided, single submitter	clinical testing
Fulgent Genetics, Fulgent Genetics	RCV002498421	SCV002811377	benign	Bethlem myopathy 1A; Ullrich congenital muscular dystrophy 1A; Dystonia 27	2021-10-21	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV001795130	SCV005261815	likely benign	not provided		criteria provided, single submitter	not provided
Clinical Genetics, Academic Medical Center	RCV001795130	SCV002034518	likely benign	not provided		no assertion criteria provided	clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV001795130	SCV002035478	likely benign	not provided		no assertion criteria provided	clinical testing