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 |
total |
45
|
16
|
291
|
236
|
27
|
611
|
Gene and significance breakdown #
Total genes and gene combinations: 2
Submitter and significance breakdown #
Submitter |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
total |
Invitae
|
37
|
10
|
286
|
236
|
25
|
594
|
Revvity Omics, Revvity
|
2
|
1
|
6
|
0 |
0 |
9
|
OMIM
|
5
|
0 |
0 |
0 |
0 |
5
|
Genome-Nilou Lab
|
0 |
0 |
0 |
0 |
3
|
3
|
Baylor Genetics
|
0 |
1
|
1
|
0 |
0 |
2
|
Genomic Research Center, Shahid Beheshti University of Medical Sciences
|
0 |
0 |
1
|
1
|
0 |
2
|
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories
|
0 |
0 |
0 |
0 |
1
|
1
|
MGZ Medical Genetics Center
|
0 |
1
|
0 |
0 |
0 |
1
|
Centogene AG - the Rare Disease Company
|
0 |
1
|
0 |
0 |
0 |
1
|
Women's Health and Genetics/Laboratory Corporation of America, LabCorp
|
1
|
0 |
0 |
0 |
0 |
1
|
Mendelics
|
1
|
0 |
0 |
0 |
0 |
1
|
Fulgent Genetics, Fulgent Genetics
|
0 |
1
|
0 |
0 |
0 |
1
|
Illumina Laboratory Services, Illumina
|
0 |
1
|
0 |
0 |
0 |
1
|
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology
|
0 |
0 |
1
|
0 |
0 |
1
|
Center for Molecular Medicine, Children’s Hospital of Fudan University
|
1
|
0 |
0 |
0 |
0 |
1
|
Institute of Human Genetics, University of Leipzig Medical Center
|
0 |
1
|
0 |
0 |
0 |
1
|
3billion
|
0 |
0 |
1
|
0 |
0 |
1
|
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center
|
1
|
0 |
0 |
0 |
0 |
1
|
Clinical Laboratory Sciences Program (CLSP), King Saud bin Abdulaziz University for Health Sciences (KSAU-HS)
|
1
|
0 |
0 |
0 |
0 |
1
|
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