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
|
15
|
145
|
233
|
42
|
4
|
447
|
Gene and significance breakdown #
Total genes and gene combinations: 5
Submitter and significance breakdown #
Submitter |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
not provided |
total |
Invitae
|
5
|
7
|
119
|
224
|
38
|
0 |
393
|
Illumina Laboratory Services, Illumina
|
0 |
0 |
15
|
9
|
1
|
0 |
25
|
OMIM
|
6
|
0 |
0 |
0 |
0 |
0 |
6
|
Revvity Omics, Revvity
|
0 |
0 |
6
|
0 |
0 |
0 |
6
|
Genetic Services Laboratory, University of Chicago
|
3
|
1
|
1
|
0 |
0 |
0 |
5
|
GeneReviews
|
0 |
0 |
0 |
0 |
0 |
4
|
4
|
Genome-Nilou Lab
|
0 |
0 |
0 |
0 |
4
|
0 |
4
|
Fulgent Genetics, Fulgent Genetics
|
0 |
0 |
1
|
1
|
1
|
0 |
3
|
Institute of Human Genetics, University of Leipzig Medical Center
|
1
|
1
|
1
|
0 |
0 |
0 |
3
|
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute
|
1
|
0 |
1
|
0 |
0 |
0 |
2
|
3billion
|
1
|
1
|
0 |
0 |
0 |
0 |
2
|
Baylor Genetics
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Institute of Human Genetics, University of Goettingen
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Institute of Human Genetics, Cologne University
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
MGZ Medical Genetics Center
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Programa de Pós-Graduação em Ciências Genômicas e Biotecnologia, Universidade Católica de Brasília
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Centre for Mendelian Genomics, University Medical Centre Ljubljana
|
0 |
0 |
0 |
0 |
1
|
0 |
1
|
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Genetics and Molecular Pathology, SA Pathology
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Laboratoire de Génétique Moléculaire, CHU Bordeaux
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Cincinnati Center for Growth Disorders, Cincinnati Children's Hospital Medical Center
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Genetic Endocrinology Unit / Unidade de Endocrinologia Genetica - LIM25, Universidade de Sao Paulo (USP)
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Laboratory of Medical Genetics, University of Torino
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Genesis Genoma Lab, Genesis Genoma Lab
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
New York Genome Center
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
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