ClinVar Miner

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

Included ClinVar conditions (2):
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
8 4 329 185 15 2 536

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
DAG1 8 4 329 185 15 2 536

Submitter and significance breakdown #

Total submitters: 10
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 5 2 328 184 13 0 532
OMIM 3 0 0 0 0 0 3
Fulgent Genetics, Fulgent Genetics 0 0 1 1 1 0 3
Mendelics 0 0 0 0 2 0 2
Genome-Nilou Lab 0 0 0 0 2 0 2
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 2 2
Baylor Genetics 0 1 0 0 0 0 1
MGZ Medical Genetics Center 0 1 0 0 0 0 1
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 0 1 0 0 0 1
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 0 1 0 1

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