Submissions for variant NM_004369.4(COL6A3):c.9494-10C>T

gnomAD frequency: 0.00050  dbSNP: rs184617787

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000725664	SCV000338474	uncertain significance	not provided	2018-01-12	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000340262	SCV000428689	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.
GeneDx	RCV000725664	SCV000732497	likely benign	not provided	2021-01-12	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 30564623)
Labcorp Genetics (formerly Invitae), Labcorp	RCV001081267	SCV001018816	benign	Bethlem myopathy 1A	2023-12-25	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000725664	SCV001962364	uncertain significance	not provided	2021-08-01	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV004547698	SCV004776368	likely benign	COL6A3-related disorder	2020-10-27	criteria provided, single submitter	clinical testing	This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).