Submissions for variant NM_004369.4(COL6A3):c.5261A>G (p.Lys1754Arg)

gnomAD frequency: 0.00808  dbSNP: rs77632596

Total submissions: 15

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000080950	SCV000112857	benign	not specified	2012-11-05	criteria provided, single submitter	clinical testing
GeneDx	RCV000080950	SCV000196796	benign	not specified	2017-08-21	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.
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia	RCV000080950	SCV000257956	benign	not specified	2015-02-19	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV000080950	SCV000310188	benign	not specified		criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000324898	SCV000428786	benign	Collagen 6-related myopathy	2018-01-12	criteria provided, single submitter	clinical testing	This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000080950	SCV000538723	likely benign	not specified	2016-06-02	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: 0.77% in ExAC, 1.1% in European population with 4 homozygotes. Emory, GeneDx, and CHOP report as B/LB
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics	RCV000514217	SCV000611050	likely benign	not provided	2017-03-10	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000987065	SCV000657340	benign	Bethlem myopathy 1A	2025-02-01	criteria provided, single submitter	clinical testing
Mendelics	RCV000987065	SCV001136256	benign	Bethlem myopathy 1A	2019-05-28	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000514217	SCV002544229	likely benign	not provided	2025-01-01	criteria provided, single submitter	clinical testing	COL6A3: BP4, BS2
Breakthrough Genomics, Breakthrough Genomics	RCV000514217	SCV005261812	likely benign	not provided		criteria provided, single submitter	not provided
Athena Diagnostics	RCV000080950	SCV005622205	benign	not specified	2024-08-29	criteria provided, single submitter	clinical testing
Clinical Genetics, Academic Medical Center	RCV000080950	SCV001917859	benign	not specified		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000514217	SCV001929819	likely benign	not provided		no assertion criteria provided	clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV000514217	SCV002036664	likely benign	not provided		no assertion criteria provided	clinical testing