ClinVar Miner

Variants studied for autosomal agammaglobulinemia

Included ClinVar conditions (10):
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
60 14 583 534 94 5 1271

Gene and significance breakdown #

Total genes and gene combinations: 15
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
PIK3R1 20 5 193 168 20 1 406
IGLL1 3 0 125 67 23 2 211
BLNK 4 4 84 97 16 0 203
CD79B, GH-LCR 2 0 53 86 8 0 149
CD79A 4 2 71 64 3 0 142
BLNK, ZNF518A 2 0 36 36 4 0 78
TCF3 1 1 16 9 3 0 29
BTK 17 0 1 0 0 0 18
LRRC8A 0 0 1 6 13 0 18
IGH, IGHM 5 2 0 1 4 2 12
​intergenic 1 0 0 0 0 0 1
ALDH18A1, BLNK, C10orf131, CC2D2B, CCNJ, ENTPD1, TCTN3, ZNF518A 0 0 1 0 0 0 1
C22orf15, CHCHD10, DERL3, DRICH1, IGLL1, MIF, MMP11, RGL4, SLC2A11, SMARCB1, VPREB3, ZNF70 0 0 1 0 0 0 1
CD79A, RPS19 0 0 1 0 0 0 1
IGHM 1 0 0 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 27 8 553 515 71 0 1174
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 4 8 30 0 42
Fulgent Genetics, Fulgent Genetics 2 0 11 10 0 0 23
Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital 17 0 1 0 0 0 18
OMIM 16 0 0 0 0 0 16
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 1 0 10 0 1 0 12
Genome-Nilou Lab 0 0 0 0 10 0 10
New York Genome Center 0 0 8 0 0 0 8
Baylor Genetics 0 0 7 0 0 0 7
Revvity Omics, Revvity 0 0 3 0 0 0 3
Institute of Human Genetics, University of Leipzig Medical Center 0 2 1 0 0 0 3
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 0 2 1 0 0 0 3
Neuberg Centre For Genomic Medicine, NCGM 0 0 3 0 0 0 3
Centogene AG - the Rare Disease Company 0 1 1 0 0 0 2
Mendelics 0 0 0 2 0 0 2
ClinVar Staff, National Center for Biotechnology Information (NCBI) 0 0 0 0 0 2 2
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 1 0 0 0 0 0 1
Mayo Clinic Laboratories, Mayo Clinic 0 0 1 0 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 1 0 0 0 1
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 0 0 1 0 0 0 1
Fundacion Publica Galega de Medicina Xenomica, Servicio Galego de Saude 1 0 0 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1
Genomics Facility, Ludwig-Maximilians-Universität München 0 1 0 0 0 0 1
UOSD Laboratory of Genetics & Genomics of Rare Diseases, Istituto Giannina Gaslini 0 0 1 0 0 0 1
3billion 1 0 0 0 0 0 1
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 1 1
GenomeConnect - Brain Gene Registry 0 0 0 0 0 1 1
Department of Human Genetics, Hannover Medical School 0 0 1 0 0 0 1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 0 1 0 0 0 1

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