ClinVar Miner

Variants studied for autosomal agammaglobulinemia

Included ClinVar conditions (9):
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
49 4 243 116 56 3 461

Gene and significance breakdown #

Total genes and gene combinations: 13
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
PIK3R1 10 1 67 31 9 1 118
IGLL1 4 0 51 23 19 0 91
BLNK 3 1 43 16 10 0 73
CD79A 3 0 38 15 0 0 55
CD79B, GH-LCR 2 0 23 17 2 0 44
BLNK, ZNF518A 2 0 12 7 0 0 21
BTK 17 0 1 0 0 0 18
TCF3 1 1 5 3 7 0 17
LRRC8A 1 0 1 3 6 0 11
IGH, IGHM 2 1 0 1 3 2 7
IGHM 4 0 0 0 0 0 4
ADORA2A, C22orf15, CABIN1, CHCHD10, DDT, DDTL, DERL3, DRICH1, GGT5, GSTT1, GSTT2, GSTT2B, IGLL1, MIF, MMP11, RGL4, SLC2A11, SMARCB1, SPECC1L, SUSD2, UPB1, VPREB3, ZNF70 0 0 1 0 0 0 1
ALDH18A1, BLNK, C10orf131, CC2D2B, CCNJ, ENTPD1, TCTN3, ZNF518A 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 17
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 15 1 228 108 38 0 390
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 0 0 2 6 30 0 38
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
Baylor Genetics 1 0 7 0 0 0 8
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 6 0 0 0 6
Mendelics 0 0 0 2 0 0 2
Fulgent Genetics,Fulgent Genetics 1 0 1 0 0 0 2
ClinVar Staff, National Center for Biotechnology Information (NCBI) 0 0 0 0 0 2 2
Institute of Human Genetics, University of Leipzig Medical Center 0 2 0 0 0 0 2
Centogene AG - the Rare Disease Company 0 1 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 University 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
UOSD Laboratory of Genetics & Genomics of Rare Diseases,Istituto Giannina Gaslini 0 0 1 0 0 0 1

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