Submissions for variant NM_001849.4(COL6A2):c.1817-3dup

dbSNP: rs149954350

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000079864	SCV000111747	benign	not specified	2012-09-19	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV000079864	SCV000308277	benign	not specified		criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000263416	SCV000436717	benign	Myosclerosis	2016-06-14	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000318558	SCV000436718	benign	Collagen 6-related myopathy	2016-06-14	criteria provided, single submitter	clinical testing
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000079864	SCV000538722	benign	not specified	2016-03-28	criteria provided, single submitter	clinical testing	Variant identified in a genome or exome case(s) and assessed due to predicted null impact of the variant or pathogenic assertions in the literature or databases. Disclaimer: This variant has not undergone full assessment. The following are preliminary notes: High allele frequency.
GeneDx	RCV000839263	SCV000981157	benign	not provided	2018-05-11	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.
Mendelics	RCV000990367	SCV001141320	benign	Bethlem myopathy 1A	2019-05-28	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000990367	SCV001731056	benign	Bethlem myopathy 1A	2025-02-03	criteria provided, single submitter	clinical testing