ClinVar Miner

Variants studied for alobar holoprosencephaly

Included ClinVar conditions (4):
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
27 4 8 2 12 52

Gene and significance breakdown #

Total genes and gene combinations: 5
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
GLI2 10 2 6 1 10 28
ZIC2 14 2 1 1 2 20
LOC110008580, ZIC2 2 0 0 0 0 2
​intergenic 1 0 0 0 0 1
DLL1 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 11
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 3 1 6 1 12 23
OMIM 13 0 0 0 0 13
GeneReviews 7 0 0 0 0 7
Muenke lab,National Institutes of Health 6 0 0 0 0 6
Baylor Miraca Genetics Laboratories, 2 1 0 0 0 3
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen 0 0 0 1 1 2
Genetic Services Laboratory, University of Chicago 1 0 0 0 0 1
Hehr Laboratory,Center for Human Genetics - University of Regensburg 0 1 0 0 0 1
Fulgent Genetics 0 0 1 0 0 1
Division of Human Genetics,Children's Hospital of Philadelphia 0 1 0 0 0 1
Laboratory of Molecular Genetics,CHU RENNES 0 0 1 0 0 1

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