Variants studied for Ullrich congenital muscular dystrophy 2; Bethlem myopathy 2

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
51	22	1242	1219	134	15	2641

Gene and significance breakdown #

Total genes and gene combinations: 3

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Gene or gene combination	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	not provided	total
COL12A1	49	21	1209	1185	129	15	2566
COL12A1, LOC126859712	1	0	31	32	5	0	69
COL12A1, LOC129996730	1	1	2	2	0	0	6

Submitter and significance breakdown #

Total submitters: 7

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Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	not provided	total
Invitae	51	20	1224	1212	134	0	2641
Fulgent Genetics, Fulgent Genetics	0	1	29	13	0	0	43
GenomeConnect - Invitae Patient Insights Network	0	0	0	0	0	11	11
GenomeConnect, ClinGen	0	0	0	0	0	4	4
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago	0	0	3	1	0	0	4
New York Genome Center	0	0	2	0	0	0	2
Baylor Genetics	0	1	0	0	0	0	1

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