ClinVar Miner

Variants studied for Immunodeficiency 14

Coded as:
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
11 6 342 450 60 1 858

Gene and significance breakdown #

Total genes and gene combinations: 5
Download table as spreadsheet
Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
PIK3CD 10 5 284 381 54 1 723
LOC126805612, PIK3CD 1 0 56 68 6 0 131
PIK3R1 0 1 0 1 0 0 2
ANGPTL7, CASZ1, CENPS, CENPS-CORT, CIROZ, CLSTN1, CORT, CTNNBIP1, DFFA, EXOSC10, KIF1B, LZIC, MASP2, MTOR, NMNAT1, PEX14, PGD, PIK3CD, RBP7, SRM, TARDBP, UBE4B 0 0 1 0 0 0 1
CENPS, CENPS-CORT, CLSTN1, CORT, CTNNBIP1, DFFA, KIF1B, LZIC, NMNAT1, PEX14, PGD, PIK3CD, RBP7, UBE4B 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 33
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 7 4 329 445 58 0 843
Neuberg Centre For Genomic Medicine, NCGM 0 1 4 0 0 0 5
OMIM 4 0 0 0 0 0 4
Baylor Genetics 1 0 3 0 0 0 4
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 1 2 1 0 4
Rarefied Biosciences Lab 0 1 0 3 0 0 4
Clinical Genomics Laboratory, Washington University in St. Louis 0 0 3 0 0 0 3
Genetics and Molecular Pathology, SA Pathology 0 0 2 1 0 0 3
Immunology Clinic, Ucla 2 0 0 0 1 0 3
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 1 0 1 0 0 0 2
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital 0 0 2 0 0 0 2
Genome-Nilou Lab 0 0 0 0 2 0 2
Molecular Genetics Laboratory, BC Children's and BC Women's Hospitals 1 0 0 0 0 0 1
Mendelics 0 0 1 0 0 0 1
Fulgent Genetics, Fulgent Genetics 0 0 1 0 0 0 1
Department of Medicine, University of Cambridge 1 0 0 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
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 0 1 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
St. Jude Molecular Pathology, St. Jude Children's Research 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
Provincial Medical Genetics Program of British Columbia, University of British Columbia 1 0 0 0 0 0 1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 1 0 0 0 0 0 1
Paediatric Laboratory, Institute for Maternal and Child Health - IRCCS Burlo Garofolo 0 0 1 0 0 0 1

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.