Variants studied for Collagen 6-related myopathy

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

If a variant has more than one submission, it may be counted in more than one significance column. If this is the case, the total number of variants will be less than the sum of the other cells.

pathogenic	likely pathogenic	uncertain significance	likely benign	benign	not provided	total
4	8	204	138	398	3	753

Gene and significance breakdown #

Total genes and gene combinations: 6

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Gene or gene combination	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	not provided	total
COL6A3	0	2	87	55	181	0	325
COL6A1	3	0	65	26	109	2	204
COL6A2	1	6	49	49	94	1	199
COL6A2, FTCD	0	0	0	7	9	0	16
COL6A3, LOC126806573	0	0	2	1	5	0	8
COL6A2, LOC121853033	0	0	1	0	0	0	1

Submitter and significance breakdown #

Total submitters: 9

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Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	not provided	total
Illumina Laboratory Services, Illumina	3	5	199	138	398	0	743
Molecular Genetics, Royal Melbourne Hospital	0	0	3	0	0	0	3
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	0	2	0	0	0	0	2
GenomeConnect, ClinGen	0	0	0	0	0	2	2
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute	0	0	1	0	0	0	1
Genomic Research Center, Shahid Beheshti University of Medical Sciences	0	0	1	0	0	0	1
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard	0	1	0	0	0	0	1
GenomeConnect - Invitae Patient Insights Network	0	0	0	0	0	1	1
DASA	1	0	0	0	0	0	1

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