ClinVar Miner

Variants studied for Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11

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
13 10 39 10 4 69

Gene and significance breakdown #

Total genes and gene combinations: 2
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
B3GALNT2 12 9 32 10 4 60
B3GALNT2, TBCE 1 1 7 0 0 9

Submitter and significance breakdown #

Total submitters: 11
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 5 3 38 10 4 60
OMIM 6 0 0 0 0 6
ClinVar Staff, National Center for Biotechnology Information (NCBI) 0 4 0 0 0 4
Baylor Miraca Genetics Laboratories, 1 0 1 0 0 2
Fulgent Genetics,Fulgent Genetics 0 1 1 0 0 2
Institute of Human Genetics,Klinikum rechts der Isar 1 0 0 0 0 1
Genomic Research Center,Shahid Beheshti University of Medical Sciences 0 1 0 0 0 1
UCLA Clinical Genomics Center, UCLA 0 1 0 0 0 1
Genome Diagnostics Laboratory,VU University Medical Center Amsterdam 1 0 0 0 0 1
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center 0 1 0 0 0 1
Broad Institute Rare Disease Group,Broad Institute 0 0 1 0 0 1

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