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
10 4 299 399 59 1 764

Gene and significance breakdown #

Total genes and gene combinations: 4
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
PIK3CD 9 4 246 334 53 1 639
LOC126805612, PIK3CD 1 0 51 65 6 0 123
ANGPTL7, C1orf127, CASZ1, CENPS, CENPS-CORT, 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: 29
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 7 3 290 397 58 0 755
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 1 2 3 0 6
OMIM 4 0 0 0 0 0 4
Baylor Genetics 1 0 3 0 0 0 4
Genetics and Molecular Pathology, SA Pathology 0 0 2 1 0 0 3
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
Neuberg Centre For Genomic Medicine, NCGM 0 1 1 0 0 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
Clinical Genomics Laboratory, Washington University in St. Louis 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
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
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
Immunology Clinic, Ucla 1 0 0 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

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