ClinVar Miner

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

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
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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
13 10 204 133 17 370

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 total
TOR1AIP1 5 10 112 91 14 227
LOC112577517, TOR1AIP1 6 0 92 42 3 141
LOC112577517, LOC129932003, TOR1AIP1 1 0 0 0 0 1
LOC112577517, TOR1AIP1, TOR1AIP2 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 9
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 12 8 192 130 15 357
Genome-Nilou Lab 0 1 33 9 10 53
Revvity Omics, Revvity Omics 0 0 22 0 0 22
Fulgent Genetics, Fulgent Genetics 0 0 0 2 0 2
Undiagnosed Diseases Network, NIH 0 1 1 0 0 2
OMIM 1 0 0 0 0 1
Baylor Genetics 0 0 1 0 0 1
Hadassah Hebrew University Medical Center 0 1 0 0 0 1
Al Jalila Children's Genomics Center, Al Jalila Childrens Speciality Hospital 0 0 0 0 1 1

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