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 |
86
|
46
|
93
|
183
|
42
|
2
|
410
|
Gene and significance breakdown #
Total genes and gene combinations: 3
Submitter and significance breakdown #
Submitter |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
not provided |
total |
Invitae
|
68
|
20
|
77
|
161
|
41
|
0 |
367
|
Natera, Inc.
|
1
|
0 |
14
|
22
|
0 |
0 |
37
|
ClinGen Severe Combined Immunodeficiency Variant Curation Expert Panel, ClinGen
|
5
|
2
|
7
|
4
|
1
|
0 |
19
|
Women's Health and Genetics/Laboratory Corporation of America, LabCorp
|
2
|
12
|
0 |
0 |
0 |
0 |
14
|
OMIM
|
11
|
0 |
0 |
0 |
0 |
0 |
11
|
Illumina Laboratory Services, Illumina
|
0 |
0 |
5
|
1
|
4
|
0 |
10
|
Myriad Genetics, Inc.
|
0 |
6
|
0 |
0 |
0 |
0 |
6
|
Mendelics
|
3
|
1
|
0 |
0 |
0 |
0 |
4
|
Genome-Nilou Lab
|
0 |
0 |
2
|
2
|
0 |
0 |
4
|
GeneReviews
|
0 |
0 |
0 |
0 |
0 |
2
|
2
|
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics
|
1
|
1
|
0 |
0 |
0 |
0 |
2
|
Department of Laboratory Medicine, Yonsei University College of Medicine
|
0 |
2
|
0 |
0 |
0 |
0 |
2
|
Counsyl
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
UCLA Clinical Genomics Center, UCLA
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Klein lab, Ludwig-Maximilians-University
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Immunology Clinic, Ucla
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Laboratory of Pediatric Immunoinfectivology, Tor Vergata University
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Lifecell International Pvt. Ltd
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Beijing Key Laboratry for Genetics of Birth Defects, Beijing Children's Hospital
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Suma Genomics
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Clinic of Clinical Immunology with Stem Cell Bank, Expert Centre for Rare Diseases - PID, University Hospital "Alexandrovska"
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
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