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
|
12
|
583
|
534
|
94
|
5
|
1269
|
Gene and significance breakdown #
Total genes and gene combinations: 15
Gene or gene combination |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
not provided |
total |
PIK3R1
|
20
|
4
|
193
|
168
|
20
|
1
|
405
|
IGLL1
|
3
|
0 |
125
|
67
|
23
|
2
|
211
|
BLNK
|
4
|
3
|
84
|
97
|
16
|
0 |
202
|
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 #
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 Omics
|
0 |
0 |
3
|
0 |
0 |
0 |
3
|
Institute of Human Genetics, University of Leipzig Medical Center
|
0 |
2
|
1
|
0 |
0 |
0 |
3
|
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine
|
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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