ClinVar Miner

Variants in gene PIK3CD

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Minimum submission review status: Collection method:
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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
14 12 320 423 66 1 778

Condition and significance breakdown #

Total conditions: 13
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Immunodeficiency 14 10 5 284 381 54 1 723
not provided 3 0 47 42 27 0 114
Inborn genetic diseases 1 0 24 5 0 0 30
PIK3CD-related disorder 1 0 12 12 3 0 28
not specified 0 0 8 8 12 0 28
Activated PI3K-delta syndrome 0 3 1 17 0 0 21
Combined immunodeficiency with faciooculoskeletal anomalies; Immunodeficiency 14; Immunodeficiency 14b, autosomal recessive 1 0 5 2 1 0 9
Immunodeficiency 14b, autosomal recessive 2 2 1 0 2 0 7
Combined immunodeficiency with faciooculoskeletal anomalies 1 0 0 0 2 0 3
See cases 0 0 2 0 0 0 2
Abnormality of the immune system 0 1 0 0 0 0 1
Inherited Immunodeficiency Diseases 1 0 0 0 0 0 1
Moyamoya angiopathy 0 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 60
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 7 4 274 379 52 0 716
CeGaT Center for Human Genetics Tuebingen 2 0 13 29 3 0 47
Breakthrough Genomics, Breakthrough Genomics 0 0 6 12 19 0 37
GeneDx 2 0 16 0 13 0 31
Ambry Genetics 1 0 24 5 0 0 30
PreventionGenetics, part of Exact Sciences 1 0 12 12 3 0 28
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 1 0 3 4 12 0 20
Rarefied Biosciences Lab 0 3 0 15 0 0 18
Genetic Services Laboratory, University of Chicago 0 0 5 7 4 0 16
Blueprint Genetics 1 0 6 0 0 0 7
OMIM 6 0 0 0 0 0 6
Fulgent Genetics, Fulgent Genetics 0 0 3 2 1 0 6
Immunology Clinic, Ucla 2 0 0 3 1 0 6
Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan 0 0 0 0 6 0 6
Baylor Genetics 1 2 2 0 0 0 5
Mayo Clinic Laboratories, Mayo Clinic 0 0 5 0 0 0 5
Neuberg Centre For Genomic Medicine, NCGM 0 1 3 0 0 0 4
Revvity Omics, Revvity 0 0 3 0 0 0 3
Genome Diagnostics Laboratory, University Medical Center Utrecht 1 0 0 1 1 0 3
Clinical Genomics Laboratory, Washington University in St. Louis 0 0 3 0 0 0 3
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 3 0 0 0 3
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 1 0 2 0 0 0 3
Mendelics 0 0 2 0 0 0 2
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 1 0 1 0 0 0 2
Genetics and Molecular Pathology, SA Pathology 0 0 1 1 0 0 2
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 1 0 0 1 0 0 2
Genome-Nilou Lab 0 0 0 0 2 0 2
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 0 1 0 0 0 1
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia 0 0 0 1 0 0 1
Molecular Genetics Laboratory, BC Children's and BC Women's Hospitals 1 0 0 0 0 0 1
Department of Medicine, University of Cambridge 1 0 0 0 0 0 1
Illumina Laboratory Services, Illumina 0 0 1 0 0 0 1
University of Washington Center for Mendelian Genomics, University of Washington 0 1 0 0 0 0 1
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 0 0 1 0 0 0 1
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 1 0 0 0 0 0 1
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 1 0 0 0 0 0 1
Center of Genomic medicine, Geneva, University Hospital of Geneva 1 0 0 0 0 0 1
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden 0 0 1 0 0 0 1
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics 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
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 0 1 0 0 0 1
NIHR Bioresource Rare Diseases, University of Cambridge 1 0 0 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 0 0 1 0 0 0 1
SIB Swiss Institute of Bioinformatics 1 0 0 0 0 0 1
Juno Genomics, Hangzhou Juno Genomics, Inc 0 0 1 0 0 0 1
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 1 0 0 0 0 0 1
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 1 0 0 0 0 0 1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 1 0 0 0 0 0 1
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) 0 0 0 1 0 0 1
Genome Diagnostics Laboratory, Amsterdam University Medical Center 1 0 0 0 0 0 1
St. Jude Molecular Pathology, St. Jude Children's Research Hospital 0 0 1 0 0 0 1
Pathology and Clinical Laboratory Medicine, King Fahad Medical City 0 0 0 0 1 0 1
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital 0 0 1 0 0 0 1
UOSD Laboratory of Genetics & Genomics of Rare Diseases, Istituto Giannina Gaslini 0 0 1 0 0 0 1
New York Genome Center 0 0 1 0 0 0 1
3billion 1 0 0 0 0 0 1
Beijing Key Laboratry for Genetics of Birth Defects, Beijing Children's Hospital 1 0 0 0 0 0 1
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 1 1
R&I Genetics srl 0 1 0 0 0 0 1
Provincial Medical Genetics Program of British Columbia, University of British Columbia 1 0 0 0 0 0 1

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