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 |
15
|
16
|
496
|
384
|
75
|
5
|
894
|
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 |
All of Us Research Program, National Institutes of Health
|
2
|
1
|
356
|
170
|
20
|
0 |
549
|
Invitae
|
13
|
7
|
154
|
273
|
63
|
0 |
510
|
Illumina Laboratory Services, Illumina
|
1
|
1
|
60
|
25
|
21
|
0 |
108
|
Fulgent Genetics, Fulgent Genetics
|
0 |
0 |
60
|
9
|
2
|
0 |
71
|
Centre de Génétique Moléculaire et Chromosomique, Unité de génétique de l'Obésité et des Dyslipidémies, APHP, GH Hôpitaux Universitaires Pitié-Salpêtrière / Charles-Foix
|
3
|
1
|
9
|
6
|
0 |
0 |
19
|
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen
|
0 |
0 |
0 |
3
|
11
|
0 |
14
|
New York Genome Center
|
0 |
0 |
9
|
0 |
0 |
0 |
9
|
Genome-Nilou Lab
|
0 |
0 |
0 |
0 |
7
|
0 |
7
|
Institute of Human Genetics, University of Leipzig Medical Center
|
0 |
0 |
6
|
0 |
0 |
0 |
6
|
GeneReviews
|
0 |
0 |
0 |
0 |
0 |
5
|
5
|
Rajaie Cardiovascular, Medical and Research Center, Iran University of Medical Sciences
|
1
|
0 |
0 |
4
|
0 |
0 |
5
|
Revvity Omics, Revvity
|
1
|
1
|
2
|
0 |
0 |
0 |
4
|
Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine
|
0 |
1
|
3
|
0 |
0 |
0 |
4
|
Laboratory of molecular diagnosis of dyslipidemias, Università egli studi di Napoli Federico II
|
0 |
4
|
0 |
0 |
0 |
0 |
4
|
OMIM
|
3
|
0 |
0 |
0 |
0 |
0 |
3
|
Baylor Genetics
|
1
|
2
|
0 |
0 |
0 |
0 |
3
|
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia
|
0 |
0 |
1
|
1
|
1
|
0 |
3
|
Genome Diagnostics Laboratory, University Medical Center Utrecht
|
0 |
0 |
0 |
0 |
2
|
0 |
2
|
Mendelics
|
1
|
0 |
0 |
0 |
1
|
0 |
2
|
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, Montreal Heart Institute
|
0 |
0 |
2
|
0 |
0 |
0 |
2
|
Cardiovascular Genetics Laboratory, PathWest Laboratory Medicine WA - Fiona Stanley Hospital
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Johns Hopkins Genomics, Johns Hopkins University
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
deCODE genetics, Amgen
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
3billion
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Human Genetics Bochum, Ruhr University Bochum
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Arcensus
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
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