ClinVar Miner

Variants studied for Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1

Coded as:
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 total
11 2 2 0 0 15

Gene and significance breakdown #

Total genes and gene combinations: 3
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Gene or gene combination pathogenic likely pathogenic uncertain significance total
POMT1 10 1 2 13
B4GAT1 0 1 0 1
FKTN 1 0 0 1

Submitter and significance breakdown #

Total submitters: 9
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Submitter pathogenic likely pathogenic uncertain significance total
OMIM 7 0 0 7
Knight Diagnostic Laboratories, Oregon Health and Sciences University 1 1 0 2
Pathology and Clinical Laboratory Medicine,King Fahad Medical City 2 0 0 2
Baylor Genetics 0 0 1 1
Victorian Clinical Genetics Services,Murdoch Childrens Research Institute 0 0 1 1
Developmental Genetics Unit,King Faisal Specialist Hospital & Research Centre 0 1 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 1 0 0 1
Ege University Pediatric Genetics,Ege University 1 0 0 1
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 1 0 0 1

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