ClinVar Miner

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

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
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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
42 12 178 137 25 392

Gene and significance breakdown #

Total genes and gene combinations: 6
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
CRPPA 30 12 147 122 22 331
CRPPA, LOC129998005 6 0 19 7 3 35
CRPPA, LOC129998004 3 0 8 4 0 15
CRPPA, LOC129389757 1 0 4 4 0 9
ANKMY2, BZW2, CRPPA, LOC129998004, LOC129998005, LOC129998006, LRRC72, SOSTDC1 1 0 0 0 0 1
CRPPA, LOC129389758 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 10
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 40 11 177 136 25 389
OMIM 2 0 0 0 0 2
3billion 0 0 2 0 0 2
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 0 2 0 0 2
MGZ Medical Genetics Center 0 0 1 0 0 1
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 1 0 0 0 0 1
Fulgent Genetics, Fulgent Genetics 0 0 0 1 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 1 0 0 0 1
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 0 0 1 0 0 1
Broad Institute Rare Disease Group, Broad Institute 0 0 1 0 0 1

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