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
9 6 78 11 14 3 120

Gene and significance breakdown #

Total genes and gene combinations: 1
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
POMT2 9 6 78 11 14 3 120

Submitter and significance breakdown #

Total submitters: 8
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 7 3 76 11 14 0 111
Fulgent Genetics,Fulgent Genetics 1 0 3 0 0 0 4
GenomeConnect, ClinGen 0 0 0 0 0 3 3
OMIM 2 0 0 0 0 0 2
Genetic Services Laboratory, University of Chicago 0 2 0 0 0 0 2
Genomic Research Center,Shahid Beheshti University of Medical Sciences 0 0 1 0 0 0 1
Illumina Clinical Services Laboratory,Illumina 0 0 1 0 0 0 1
Center for Genetic Medicine Research,Children's National Medical Center 0 1 0 0 0 0 1

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