Submissions for variant NM_004369.4(COL6A3):c.5820C>T (p.Ser1940=)

gnomAD frequency: 0.00272  dbSNP: rs113542401

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
PreventionGenetics, part of Exact Sciences	RCV000245157	SCV000310191	likely benign	not specified		criteria provided, single submitter	clinical testing
Eurofins Ntd Llc (ga)	RCV000245157	SCV000337169	benign	not specified	2016-08-30	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000548891	SCV000657356	benign	Bethlem myopathy 1A	2024-01-20	criteria provided, single submitter	clinical testing
GeneDx	RCV001697599	SCV000719130	likely benign	not provided	2020-10-20	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001141403	SCV001301747	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	RCV001697599	SCV004699911	likely benign	not provided	2023-12-01	criteria provided, single submitter	clinical testing	COL6A3: BP4, BP7