ClinVar Miner

Variants in gene PIK3R2

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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
8 9 184 172 76 2 414

Condition and significance breakdown #

Total conditions: 11
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 4 4 88 121 55 2 269
not provided 6 3 57 46 38 0 143
Inborn genetic diseases 1 0 51 5 0 0 57
PIK3R2-related disorder 2 1 6 17 4 0 30
not specified 0 0 4 6 11 0 21
Overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes 1 0 0 3 1 0 5
Seizure 2 1 0 0 0 0 3
Intellectual disability 1 0 0 0 0 0 1
Megalencephaly-capillary malformation-polymicrogyria syndrome 1 0 0 0 0 0 1
Multiple myeloma 0 1 0 0 0 0 1
Overgrowth syndrome 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 50
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 1 0 75 128 55 0 259
GeneDx 6 3 31 15 35 0 90
Ambry Genetics 1 0 51 5 0 0 57
CeGaT Center for Human Genetics Tuebingen 1 0 19 21 4 0 45
PreventionGenetics, part of Exact Sciences 1 1 6 17 4 0 29
Breakthrough Genomics, Breakthrough Genomics 0 0 0 4 18 0 22
Clinical Genetics, Academic Medical Center 0 0 0 0 7 0 7
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 1 0 0 0 6 0 7
Genetic Services Laboratory, University of Chicago 1 0 0 2 3 0 6
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 0 3 3 0 0 6
Revvity Omics, Revvity 1 0 4 0 0 0 5
Fulgent Genetics, Fulgent Genetics 1 0 3 1 0 0 5
ClinGen Brain Malformations Variant Curation Expert Panel 1 0 0 3 1 0 5
Eurofins Ntd Llc (ga) 0 0 1 1 2 0 4
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden 0 0 4 0 0 0 4
Centre for Mendelian Genomics, University Medical Centre Ljubljana 1 0 3 0 0 0 4
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) 0 0 0 2 2 0 4
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics 0 0 1 1 1 0 3
Yale Center for Mendelian Genomics, Yale University 2 1 0 0 0 0 3
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 0 3 0 3
Genome-Nilou Lab 0 0 0 0 3 0 3
3billion 1 1 1 0 0 0 3
OMIM 2 0 0 0 0 0 2
Baylor Genetics 1 0 1 0 0 0 2
Mendelics 0 0 1 0 1 0 2
Clinical Genomics Laboratory, Washington University in St. Louis 0 0 2 0 0 0 2
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 2 0 0 0 0 0 2
Institute of Human Genetics, University of Leipzig Medical Center 0 1 1 0 0 0 2
Neuberg Centre For Genomic Medicine, NCGM 1 0 1 0 0 0 2
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 0 1 0 0 0 1
Institute for Genomic Medicine (IGM) Clinical Laboratory, Nationwide Children's Hospital 1 0 0 0 0 0 1
MGZ Medical Genetics Center 0 0 1 0 0 0 1
Genome Diagnostics Laboratory, University Medical Center Utrecht 1 0 0 0 0 0 1
GeneReviews 0 0 0 0 0 1 1
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 1 0 0 0 0 0 1
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 0 0 1 0 0 0 1
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 0 1 0 0 0 0 1
NeuroMeGen, Hospital Clinico Santiago de Compostela 0 1 0 0 0 0 1
Laboratory of Molecular Genetics (Pr. Bezieau's lab), CHU de Nantes 1 0 0 0 0 0 1
Department Of Pediatrics And Neonatology, Nagoya City University Graduate School Of Medical Sciences 1 0 0 0 0 0 1
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 1 0 0 0 0 0 1
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 0 1 0 0 0 0 1
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 1 0 0 0 0 0 1
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 0 1 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1
Center for Personalized Medicine, Children's Hospital Los Angeles 0 0 1 0 0 0 1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 1 0 0 0 0 0 1
Xiao lab, Department of Pathology, Memorial Sloan Kettering Cancer Center 0 1 0 0 0 0 1
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 1 0 0 0 0 0 1
Clinical Genetics Laboratory, Skane University Hospital Lund 1 0 0 0 0 0 1

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