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 |
61
|
24
|
341
|
319
|
95
|
12
|
782
|
Condition and significance breakdown #
Submitter and significance breakdown #
Submitter |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
not provided |
total |
Invitae
|
36
|
6
|
261
|
300
|
54
|
0 |
657
|
Illumina Laboratory Services, Illumina
|
1
|
0 |
86
|
15
|
28
|
0 |
130
|
GeneDx
|
7
|
3
|
1
|
2
|
46
|
0 |
59
|
Ambry Genetics
|
2
|
0 |
35
|
1
|
0 |
0 |
38
|
PreventionGenetics, part of Exact Sciences
|
1
|
1
|
2
|
19
|
4
|
0 |
27
|
Genomic Research Center, Shahid Beheshti University of Medical Sciences
|
10
|
2
|
0 |
0 |
6
|
7
|
25
|
Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan
|
0 |
0 |
0 |
0 |
16
|
0 |
16
|
OMIM
|
14
|
0 |
0 |
0 |
0 |
0 |
14
|
Fulgent Genetics, Fulgent Genetics
|
0 |
1
|
6
|
2
|
0 |
0 |
9
|
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine
|
0 |
0 |
0 |
0 |
6
|
0 |
6
|
Mayo Clinic Laboratories, Mayo Clinic
|
0 |
0 |
6
|
0 |
0 |
0 |
6
|
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago
|
0 |
1
|
2
|
2
|
1
|
0 |
6
|
CeGaT Center for Human Genetics Tuebingen
|
2
|
0 |
0 |
3
|
0 |
0 |
5
|
Genome-Nilou Lab
|
0 |
0 |
0 |
0 |
5
|
0 |
5
|
Revvity Omics, Revvity
|
1
|
2
|
1
|
0 |
0 |
0 |
4
|
Genome Diagnostics Laboratory, University Medical Center Utrecht
|
0 |
0 |
0 |
4
|
0 |
0 |
4
|
UniProtKB/Swiss-Prot
|
0 |
0 |
0 |
0 |
0 |
4
|
4
|
Mendelics
|
0 |
0 |
0 |
2
|
1
|
0 |
3
|
Blueprint Genetics
|
1
|
1
|
1
|
0 |
0 |
0 |
3
|
GenomeConnect, ClinGen
|
0 |
0 |
0 |
0 |
0 |
3
|
3
|
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen
|
0 |
0 |
0 |
0 |
3
|
0 |
3
|
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center
|
0 |
0 |
0 |
3
|
0 |
0 |
3
|
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine
|
0 |
3
|
0 |
0 |
0 |
0 |
3
|
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein
|
1
|
1
|
1
|
0 |
0 |
0 |
3
|
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+
|
0 |
0 |
0 |
0 |
2
|
0 |
2
|
Department of Pediatrics and Developmental Biology, Tokyo Medical and Dental University
|
1
|
1
|
0 |
0 |
0 |
0 |
2
|
Baylor Genetics
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics
|
0 |
0 |
0 |
1
|
0 |
0 |
1
|
Centre for Mendelian Genomics, University Medical Centre Ljubljana
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Center for Medical Genetics, GenVams Trust
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Koker Lab, University of Erciyes Medical School
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
3billion
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Beijing Key Laboratry for Genetics of Birth Defects, Beijing Children's Hospital
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Clinic of Clinical Immunology with Stem Cell Bank, Expert Centre for Rare Diseases - PID, University Hospital "Alexandrovska"
|
1
|
0 |
0 |
0 |
0 |
0 |
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.