Variants studied for LAMA2-related muscular dystrophy

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
478	121	1021	2288	149	4	4050

Gene and significance breakdown #

Total genes and gene combinations: 4

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Gene or gene combination	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	not provided	total
LAMA2	461	118	985	2218	144	4	3919
LAMA2, LOC123864065	12	2	24	49	5	0	92
LAMA2, LOC126859784	4	1	12	21	0	0	38
LAMA2, LOC123864065, LOC126859783, LOC126859784	1	0	0	0	0	0	1

Submitter and significance breakdown #

Total submitters: 7

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Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	not provided	total
Invitae	476	111	1017	2288	149	0	4041
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	10	11	0	0	0	0	21
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute	1	1	1	0	0	0	3
Genomic Research Center, Shahid Beheshti University of Medical Sciences	0	0	3	0	0	0	3
GenomeConnect, ClinGen	0	0	0	0	0	3	3
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard	1	0	0	0	0	0	1
GenomeConnect - Invitae Patient Insights Network	0	0	0	0	0	1	1

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