ClinVar Miner

Variants studied for megalencephaly-capillary malformation-polymicrogyria syndrome

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 not provided total
28 13 7 0 0 1 44

Gene and significance breakdown #

Total genes and gene combinations: 4
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Gene or gene combination pathogenic likely pathogenic uncertain significance not provided total
PIK3CA 26 12 7 1 41
AKT3 1 0 0 0 1
PIK3R2 1 0 0 0 1
RIT1 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 28
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Submitter pathogenic likely pathogenic uncertain significance not provided total
3billion 5 4 0 0 9
OMIM 5 0 0 0 5
Fulgent Genetics, Fulgent Genetics 2 0 3 0 5
Institute of Human Genetics, University of Leipzig Medical Center 1 1 2 0 4
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 2 0 1 0 3
Genetics and Personalized Medicine Clinic, Tartu University Hospital 3 0 0 0 3
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 3 0 0 0 3
Medical Genetics Laboratory, Aldo Moro University of Bari 3 0 0 0 3
Baylor Genetics 2 0 0 0 2
Centogene AG - the Rare Disease Company 2 0 0 0 2
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 1 1 0 0 2
Department Of Pediatrics And Neonatology, Nagoya City University Graduate School Of Medical Sciences 2 0 0 0 2
Center for Medical Genetics and Molecular Medicine, Haukeland University Hospital 1 1 0 0 2
Yale Center for Mendelian Genomics, Yale University 1 1 0 0 2
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 2 0 0 0 2
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 1 0 0 1
MGZ Medical Genetics Center 1 0 0 0 1
GeneReviews 0 0 0 1 1
Illumina Laboratory Services, Illumina 1 0 0 0 1
UCLA Clinical Genomics Center, UCLA 0 1 0 0 1
Duke University Health System Sequencing Clinic, Duke University Health System 1 0 0 0 1
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden 1 0 0 0 1
Undiagnosed Diseases Network, NIH 1 0 0 0 1
Bruce Lefroy Centre, Murdoch Childrens Research Institute 0 1 0 0 1
Johns Hopkins Genomics, Johns Hopkins University 0 1 0 0 1
Neuberg Centre For Genomic Medicine, NCGM 0 0 1 0 1
Genomics England Pilot Project, Genomics England 0 1 0 0 1
Developmental Brain Disorders Lab, Seattle Children's Hospital 1 0 0 0 1

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