Submissions for variant NM_004369.4(COL6A3):c.6618C>T (p.Pro2206=)

gnomAD frequency: 0.00029  dbSNP: rs201814201

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000380662	SCV000331940	benign	not specified	2015-07-01	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000319329	SCV000428766	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.
GeneDx	RCV000547480	SCV000519763	likely benign	not provided	2021-04-02	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV001079283	SCV000657376	benign	Bethlem myopathy 1A	2025-01-14	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000547480	SCV001153364	likely benign	not provided	2025-02-01	criteria provided, single submitter	clinical testing	COL6A3: BP4, BP7
Breakthrough Genomics, Breakthrough Genomics	RCV000547480	SCV005261804	likely benign	not provided		criteria provided, single submitter	not provided