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 |
|
16
|
48
|
69
|
6
|
10
|
15
|
141
|
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 |
|
TTPA
|
16
|
48
|
69
|
6
|
10
|
15
|
141
|
Submitter and significance breakdown #
| Submitter |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
not provided |
total |
|
Illumina Laboratory Services, Illumina
|
0 |
0 |
49
|
1
|
9
|
0 |
59
|
|
Baylor Genetics
|
10
|
23
|
0 |
0 |
0 |
0 |
33
|
|
Natera, Inc.
|
6
|
1
|
17
|
3
|
4
|
0 |
31
|
|
Counsyl
|
0 |
13
|
7
|
1
|
0 |
0 |
21
|
|
Fulgent Genetics, Fulgent Genetics
|
5
|
12
|
1
|
1
|
0 |
0 |
19
|
|
GeneReviews
|
1
|
0 |
0 |
0 |
0 |
15
|
16
|
|
Women's Health and Genetics/Laboratory Corporation of America, LabCorp
|
7
|
3
|
0 |
0 |
0 |
0 |
10
|
|
Myriad Genetics, Inc.
|
3
|
3
|
0 |
0 |
0 |
0 |
6
|
|
Mendelics
|
1
|
1
|
0 |
0 |
1
|
0 |
3
|
|
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine
|
2
|
0 |
0 |
0 |
0 |
0 |
2
|
|
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen
|
1
|
0 |
0 |
0 |
1
|
0 |
2
|
|
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center
|
1
|
0 |
0 |
0 |
1
|
0 |
2
|
|
Genome-Nilou Lab
|
0 |
0 |
0 |
0 |
2
|
0 |
2
|
|
Revvity Omics, Revvity
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
|
Centogene AG - the Rare Disease Company
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
|
Genomic Research Center, Shahid Beheshti University of Medical Sciences
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
|
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
|
Centre for Mendelian Genomics, University Medical Centre Ljubljana
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
|
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
|
Juno Genomics, Hangzhou Juno Genomics, Inc
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
|
Molecular Medicine for Neurodegenerative and Neuromuscular Diseases Unit, IRCCS Fondazione Stella Maris
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
|
3billion, Medical Genetics
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
|
Concord Molecular Medicine Laboratory, Concord Repatriation General Hospital
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
|
Solve-RD Consortium
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
|
Dr.Nikuei Genetic Center
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
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