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 |
102
|
101
|
157
|
320
|
24
|
29
|
627
|
Gene and significance breakdown #
Total genes and gene combinations: 4
Submitter and significance breakdown #
Submitter |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
not provided |
total |
Invitae
|
84
|
30
|
108
|
311
|
16
|
0 |
549
|
Natera, Inc.
|
16
|
6
|
40
|
11
|
7
|
0 |
80
|
Genome-Nilou Lab
|
27
|
14
|
14
|
7
|
12
|
0 |
74
|
Baylor Genetics
|
32
|
37
|
1
|
0 |
0 |
0 |
70
|
Counsyl
|
4
|
24
|
18
|
0 |
0 |
0 |
46
|
Illumina Laboratory Services, Illumina
|
0 |
1
|
26
|
5
|
8
|
0 |
40
|
UniProtKB/Swiss-Prot
|
0 |
0 |
0 |
0 |
0 |
29
|
29
|
ClinGen Severe Combined Immunodeficiency Variant Curation Expert Panel, ClinGen
|
7
|
8
|
6
|
3
|
3
|
0 |
27
|
OMIM
|
25
|
0 |
1
|
0 |
0 |
0 |
26
|
Myriad Genetics, Inc.
|
1
|
17
|
0 |
0 |
0 |
0 |
18
|
Fulgent Genetics, Fulgent Genetics
|
4
|
2
|
6
|
1
|
1
|
0 |
14
|
Revvity Omics, Revvity Omics
|
5
|
4
|
4
|
0 |
0 |
0 |
13
|
Women's Health and Genetics/Laboratory Corporation of America, LabCorp
|
3
|
0 |
0 |
0 |
0 |
0 |
3
|
Mendelics
|
0 |
1
|
0 |
0 |
2
|
0 |
3
|
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine
|
1
|
1
|
1
|
0 |
0 |
0 |
3
|
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine
|
0 |
2
|
0 |
0 |
0 |
0 |
2
|
Genome Diagnostics Laboratory, University Medical Center Utrecht
|
0 |
0 |
0 |
2
|
0 |
0 |
2
|
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago
|
0 |
0 |
2
|
0 |
0 |
0 |
2
|
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center
|
0 |
0 |
0 |
2
|
0 |
0 |
2
|
Johns Hopkins Genomics, Johns Hopkins University
|
2
|
0 |
0 |
0 |
0 |
0 |
2
|
Laboratory of Pediatric Immunoinfectivology, Tor Vergata University
|
2
|
0 |
0 |
0 |
0 |
0 |
2
|
Beijing Key Laboratry for Genetics of Birth Defects, Beijing Children's Hospital
|
2
|
0 |
0 |
0 |
0 |
0 |
2
|
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
UCLA Clinical Genomics Center, UCLA
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Ege University Pediatric Genetics, Ege University
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Broad Institute Rare Disease Group, Broad Institute
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Pathology and Clinical Laboratory Medicine, King Fahad Medical City
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Genomics Facility, Ludwig-Maximilians-Universität München
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Pars Genome Lab
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
3billion
|
0 |
1
|
0 |
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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