ClinVar Miner

Variants studied for autosomal recessive limb-girdle muscular dystrophy type 2N

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
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
65 26 392 458 48 3 970

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
POMT2 61 26 370 444 45 3 927
LOC130056177, POMT2 0 0 13 6 3 0 22
LOC130056175, POMT2 4 0 8 4 0 0 16
LOC130056176, POMT2 0 0 1 4 0 0 5

Submitter and significance breakdown #

Total submitters: 14
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 62 20 309 449 31 0 871
Illumina Laboratory Services, Illumina 0 0 91 8 19 0 118
Fulgent Genetics, Fulgent Genetics 2 1 12 1 0 0 16
Genome-Nilou Lab 0 0 0 0 4 0 4
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 3 0 0 0 0 3
OMIM 2 0 0 0 0 0 2
Genetic Services Laboratory, University of Chicago 0 2 0 0 0 0 2
MGZ Medical Genetics Center 0 1 1 0 0 0 2
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 0 0 2 0 0 0 2
GenomeConnect, ClinGen 0 0 0 0 0 2 2
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 1 0 0 0 1
Center for Genetic Medicine Research, Children's National Medical Center 0 1 0 0 0 0 1
3billion 0 1 0 0 0 0 1
GenomeConnect - Brain Gene Registry 0 0 0 0 0 1 1

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