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 |
43
|
40
|
299
|
216
|
31
|
1
|
578
|
Condition and significance breakdown #
Submitter and significance breakdown #
Submitter |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
not provided |
total |
Invitae
|
31
|
18
|
187
|
154
|
14
|
0 |
404
|
Ambry Genetics
|
2
|
9
|
116
|
56
|
4
|
0 |
187
|
GeneDx
|
6
|
7
|
71
|
54
|
15
|
0 |
153
|
Fulgent Genetics, Fulgent Genetics
|
0 |
2
|
22
|
5
|
0 |
0 |
29
|
PreventionGenetics, part of Exact Sciences
|
0 |
2
|
12
|
10
|
0 |
0 |
24
|
Women's Health and Genetics/Laboratory Corporation of America, LabCorp
|
0 |
0 |
10
|
7
|
6
|
0 |
23
|
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario
|
0 |
4
|
9
|
5
|
3
|
0 |
21
|
CeGaT Center for Human Genetics Tuebingen
|
1
|
3
|
5
|
8
|
2
|
0 |
19
|
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories
|
0 |
0 |
7
|
3
|
6
|
0 |
16
|
OMIM
|
8
|
0 |
0 |
0 |
0 |
0 |
8
|
Genome Diagnostics Laboratory, University Medical Center Utrecht
|
0 |
0 |
3
|
3
|
1
|
0 |
7
|
Blueprint Genetics
|
0 |
2
|
4
|
0 |
0 |
0 |
6
|
Illumina Laboratory Services, Illumina
|
0 |
1
|
5
|
0 |
0 |
0 |
6
|
Genome Diagnostics Laboratory, Amsterdam University Medical Center
|
1
|
0 |
3
|
2
|
0 |
0 |
6
|
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center
|
0 |
0 |
2
|
4
|
0 |
0 |
6
|
AiLife Diagnostics, AiLife Diagnostics
|
0 |
0 |
5
|
0 |
0 |
0 |
5
|
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago
|
0 |
1
|
3
|
0 |
0 |
0 |
4
|
Center for Advanced Laboratory Medicine, UC San Diego Health, University of California San Diego
|
0 |
0 |
1
|
3
|
0 |
0 |
4
|
Baylor Genetics
|
1
|
0 |
2
|
0 |
0 |
0 |
3
|
Biesecker Lab/Clinical Genomics Section, National Institutes of Health
|
0 |
0 |
2
|
1
|
0 |
0 |
3
|
Mayo Clinic Laboratories, Mayo Clinic
|
0 |
0 |
3
|
0 |
0 |
0 |
3
|
Genetics and Molecular Pathology, SA Pathology
|
0 |
0 |
3
|
0 |
0 |
0 |
3
|
Dept of Medical Biology, Uskudar University
|
0 |
0 |
2
|
0 |
1
|
0 |
3
|
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center
|
0 |
1
|
1
|
0 |
0 |
0 |
2
|
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, Montreal Heart Institute
|
0 |
0 |
2
|
0 |
0 |
0 |
2
|
Centre for Mendelian Genomics, University Medical Centre Ljubljana
|
0 |
0 |
2
|
0 |
0 |
0 |
2
|
Institute of Human Genetics, University Hospital Muenster
|
0 |
0 |
2
|
0 |
0 |
0 |
2
|
3billion
|
0 |
1
|
1
|
0 |
0 |
0 |
2
|
Molecular Genetics Laboratory - Cardiogenetics, CHU de Nantes
|
0 |
0 |
2
|
0 |
0 |
0 |
2
|
Center for Human Genetics, Inc, Center for Human Genetics, Inc
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Revvity Omics, Revvity
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Mendelics
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
CSER _CC_NCGL, University of Washington
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Clinical Genetics and Genomics, Karolinska University Hospital
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Institute for Human Genetics and Genomic Medicine, Uniklinik RWTH Aachen
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Stanford Center for Inherited Cardiovascular Disease, Stanford University
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Center for Human Genetics, University of Leuven
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Institute of Human Genetics, University of Leipzig Medical Center
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Laboratory of Medical Genetics, National & Kapodistrian University of Athens
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Clinical Genomics Program, Stanford Medicine
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
New York Genome Center
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
GenomeConnect - Invitae Patient Insights Network
|
0 |
0 |
0 |
0 |
0 |
1
|
1
|
The information on this website is not intended for direct
diagnostic use or medical decision-making without review by a
genetics professional. Individuals should not change their
health behavior solely on the basis of information contained on
this website. Neither the University of Utah nor the National
Institutes of Health independently verfies the submitted
information. If you have questions about the information
contained on this website, please see a health care
professional.