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 |
57
|
19
|
327
|
311
|
65
|
7
|
726
|
Gene and significance breakdown #
Total genes and gene combinations: 1
Gene or gene combination |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
not provided |
total |
ITGB2
|
57
|
19
|
327
|
311
|
65
|
7
|
726
|
Submitter and significance breakdown #
Submitter |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
not provided |
total |
Labcorp Genetics (formerly Invitae), Labcorp
|
37
|
6
|
261
|
298
|
54
|
0 |
656
|
Illumina Laboratory Services, Illumina
|
2
|
0 |
83
|
14
|
28
|
0 |
127
|
Genomic Research Center, Shahid Beheshti University of Medical Sciences
|
10
|
2
|
0 |
0 |
6
|
7
|
25
|
OMIM
|
14
|
0 |
0 |
0 |
0 |
0 |
14
|
Fulgent Genetics, Fulgent Genetics
|
0 |
1
|
6
|
2
|
0 |
0 |
9
|
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago
|
0 |
1
|
2
|
2
|
1
|
0 |
6
|
Genome-Nilou Lab
|
0 |
0 |
0 |
0 |
5
|
0 |
5
|
Neuberg Centre For Genomic Medicine, NCGM
|
0 |
3
|
2
|
0 |
0 |
0 |
5
|
Revvity Omics, Revvity
|
1
|
2
|
1
|
0 |
0 |
0 |
4
|
Mendelics
|
0 |
0 |
0 |
2
|
1
|
0 |
3
|
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein
|
1
|
1
|
1
|
0 |
0 |
0 |
3
|
Department of Pediatrics and Developmental Biology, Tokyo Medical and Dental University
|
1
|
1
|
0 |
0 |
0 |
0 |
2
|
Baylor Genetics
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Centre for Mendelian Genomics, University Medical Centre Ljubljana
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Center for Medical Genetics, GenVams Trust
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Koker Lab, University of Erciyes Medical School
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
3billion
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Beijing Key Laboratry for Genetics of Birth Defects, Beijing Children's Hospital
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Clinic of Clinical Immunology with Stem Cell Bank, Expert Centre for Rare Diseases - PID, University Hospital "Alexandrovska"
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
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