ClinVar Miner

Variants studied for bilateral perisylvian polymicrogyria

Included ClinVar conditions (6):
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
20 12 22 0 21 74

Gene and significance breakdown #

Total genes and gene combinations: 9
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Gene or gene combination pathogenic likely pathogenic uncertain significance benign total
PI4KA 12 5 17 20 53
ADGRG1 2 3 5 1 11
TUBA1A 2 1 0 0 3
PAH 2 0 0 0 2
DDX23 0 1 0 0 1
NUS1 0 1 0 0 1
SCN3A 1 0 0 0 1
TUBB2B 1 0 0 0 1
WFS1 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 19
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Submitter pathogenic likely pathogenic uncertain significance benign total
Genome-Nilou Lab 0 0 0 20 20
OMIM 11 0 0 0 11
Baylor Genetics 1 0 7 0 8
Fulgent Genetics, Fulgent Genetics 1 1 4 1 7
Center for Statistical Genetics, Columbia University 3 3 0 0 6
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 1 3 0 4
Engle Laboratory, Boston Children's Hospital 1 1 0 0 2
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 0 0 2 0 2
Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin 0 2 0 0 2
Undiagnosed Diseases Network, NIH 2 0 0 0 2
Genetics and Molecular Pathology, SA Pathology 0 0 2 0 2
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 0 1 1 0 2
Centogene AG - the Rare Disease Company 0 0 1 0 1
Mendelics 1 0 0 0 1
Service de Génétique Moléculaire, Hôpital Robert Debré 0 0 1 0 1
Laboratory of Medical Genetics, University of Torino 0 1 0 0 1
New York Genome Center 0 1 0 0 1
3billion 0 0 1 0 1
Neuberg Centre For Genomic Medicine, NCGM 0 1 0 0 1

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