ClinVar Miner

Variants studied for Autosomal recessive limb-girdle muscular dystrophy type 2G

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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 total
2 5 18 0 3 28

Gene and significance breakdown #

Total genes and gene combinations: 1
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Gene or gene combination pathogenic likely pathogenic uncertain significance benign total
TCAP 2 5 18 3 28

Submitter and significance breakdown #

Total submitters: 10
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Submitter pathogenic likely pathogenic uncertain significance benign total
Illumina Laboratory Services, Illumina 0 0 16 3 19
OMIM 2 0 0 0 2
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 0 2 0 2
Evolutionary and Medical Genetics Laboratory, Center for Cellular and Molecular Biology 0 1 0 0 1
UCLA Clinical Genomics Center, UCLA 0 1 0 0 1
Tehran Medical Genetics Laboratory 0 1 0 0 1
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 1 0 0 1
Genome-Nilou Lab 0 0 0 1 1
3billion 0 1 0 0 1
DASA 1 0 0 0 1

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