ClinVar Miner

Variants studied for developmental and epileptic encephalopathy 91

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 total
12 6 34 23 1 75

Gene and significance breakdown #

Total genes and gene combinations: 3
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
PPP3CA 12 6 34 22 0 73
LOC123477793, PPP3CA 0 0 0 1 0 1
LOC129992871, PPP3CA 0 0 0 0 1 1

Submitter and significance breakdown #

Total submitters: 21
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Fulgent Genetics, Fulgent Genetics 0 0 28 23 0 51
OMIM 6 0 0 0 0 6
Baylor Genetics 2 0 0 0 0 2
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 1 1 0 0 0 2
Mendelics 2 0 0 0 0 2
New York Genome Center 0 0 2 0 0 2
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn 0 1 1 0 0 2
Neuberg Centre For Genomic Medicine, NCGM 0 0 2 0 0 2
Institute of Human Genetics, University of Goettingen 0 0 1 0 0 1
MGZ Medical Genetics Center 1 0 0 0 0 1
Intergen, Intergen Genetics and Rare Diseases Diagnosis Center 0 0 0 0 1 1
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 1 0 0 0 0 1
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 0 0 1 0 0 1
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 1 0 0 0 1
Undiagnosed Diseases Network, NIH 1 0 0 0 0 1
Center for Molecular Medicine, Children’s Hospital of Fudan University 0 1 0 0 0 1
Cavalleri Lab, Royal College of Surgeons in Ireland 0 1 0 0 0 1
Molecular Genetics Lab, CHRU Brest 1 0 0 0 0 1
3billion, Medical Genetics 1 0 0 0 0 1
Suma Genomics 0 1 0 0 0 1
MVZ Medizinische Genetik Mainz 1 0 0 0 0 1

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