ClinVar Miner

Variants studied for LAMA2-related muscular dystrophy

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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
463 116 1021 2288 149 4 4030

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 446 113 985 2218 144 4 3899
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 461 106 1017 2288 149 0 4021
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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