Submissions for variant NM_004369.4(COL6A3):c.9524T>C (p.Met3175Thr)

gnomAD frequency: 0.00112  dbSNP: rs148183839

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000375535	SCV000334622	likely benign	not specified	2015-09-01	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000280523	SCV000428688	benign	Collagen 6-related myopathy	2018-01-13	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.
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics	RCV000443634	SCV000511061	uncertain significance	not provided	2016-11-08	criteria provided, single submitter	clinical testing	Converted during submission to Uncertain significance.
GeneDx	RCV000443634	SCV000518888	likely benign	not provided	2019-04-12	criteria provided, single submitter	clinical testing
Institute for Genomic Medicine (IGM) Clinical Laboratory, Nationwide Children's Hospital	RCV000375535	SCV000864347	likely benign	not specified	2017-10-05	criteria provided, single submitter	clinical testing	BS1,BP6; This alteration has an allele frequency that is greater than expected for the associated disease, and was reported as a benign/likely benign alteration by a reputable source (ClinVar or other correspondence from a clinical testing laboratory).
Labcorp Genetics (formerly Invitae), Labcorp	RCV001089085	SCV001006397	benign	Bethlem myopathy 1A	2023-12-06	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000443634	SCV004701523	likely benign	not provided	2023-12-01	criteria provided, single submitter	clinical testing	COL6A3: BS1
PreventionGenetics, part of Exact Sciences	RCV004547673	SCV004762064	benign	COL6A3-related disorder	2023-11-22	no assertion criteria provided	clinical testing	This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).