Submissions for variant NM_001848.3(COL6A1):c.202C>T (p.Arg68Cys)

gnomAD frequency: 0.00057  dbSNP: rs137964147

Total submissions: 9

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000724794	SCV000227237	uncertain significance	not provided	2018-02-13	criteria provided, single submitter	clinical testing
GeneDx	RCV000724794	SCV000567801	uncertain significance	not provided	2023-09-06	criteria provided, single submitter	clinical testing	Reported as a heterozygous variant of uncertain significance in an individual with limb-girdle muscular dystrophy in published literature (Nallamikki et al., 2018); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 30564623)
Genetic Services Laboratory, University of Chicago	RCV000175702	SCV000594191	uncertain significance	not specified	2017-02-02	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000653530	SCV000775411	likely benign	Bethlem myopathy 1A	2023-12-19	criteria provided, single submitter	clinical testing
Fulgent Genetics, Fulgent Genetics	RCV000764263	SCV000895276	uncertain significance	Bethlem myopathy 1A; Ullrich congenital muscular dystrophy 1A	2018-10-31	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001139936	SCV001300136	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.
CeGaT Center for Human Genetics Tuebingen	RCV000724794	SCV001501807	uncertain significance	not provided	2020-10-01	criteria provided, single submitter	clinical testing
Revvity Omics, Revvity	RCV000724794	SCV003828587	uncertain significance	not provided	2023-07-14	criteria provided, single submitter	clinical testing
NeuroMeGen, Hospital Clinico Santiago de Compostela	RCV000754716	SCV000882599	likely pathogenic	Ullrich congenital muscular dystrophy 1A	2018-10-08	flagged submission	clinical testing