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 |
76
|
31
|
1683
|
1300
|
139
|
4
|
3092
|
Condition and significance breakdown #
Submitter and significance breakdown #
Submitter |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
not provided |
total |
Ambry Genetics
|
2
|
0 |
1128
|
813
|
0 |
0 |
1943
|
Invitae
|
67
|
15
|
723
|
602
|
65
|
0 |
1472
|
Genome-Nilou Lab
|
0 |
1
|
164
|
138
|
39
|
0 |
342
|
GeneDx
|
0 |
2
|
31
|
109
|
94
|
0 |
236
|
Illumina Laboratory Services, Illumina
|
0 |
0 |
87
|
8
|
27
|
0 |
122
|
Genetic Services Laboratory, University of Chicago
|
1
|
3
|
30
|
33
|
16
|
0 |
83
|
CeGaT Center for Human Genetics Tuebingen
|
4
|
5
|
13
|
36
|
6
|
0 |
64
|
PreventionGenetics, part of Exact Sciences
|
0 |
0 |
9
|
30
|
6
|
0 |
45
|
KCCC/NGS Laboratory, Kuwait Cancer Control Center
|
0 |
0 |
0 |
11
|
19
|
0 |
30
|
University of Washington Department of Laboratory Medicine, University of Washington
|
0 |
0 |
3
|
25
|
0 |
0 |
28
|
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories
|
0 |
0 |
4
|
7
|
11
|
0 |
22
|
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center
|
0 |
0 |
3
|
10
|
3
|
0 |
16
|
Women's Health and Genetics/Laboratory Corporation of America, LabCorp
|
0 |
0 |
1
|
0 |
11
|
0 |
12
|
Fulgent Genetics, Fulgent Genetics
|
0 |
0 |
7
|
4
|
0 |
0 |
11
|
Eurofins Ntd Llc (ga)
|
0 |
0 |
3
|
0 |
7
|
0 |
10
|
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)
|
0 |
0 |
1
|
9
|
0 |
0 |
10
|
Revvity Omics, Revvity
|
0 |
1
|
7
|
0 |
0 |
0 |
8
|
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen
|
0 |
0 |
2
|
1
|
4
|
0 |
7
|
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics
|
0 |
0 |
1
|
2
|
3
|
0 |
6
|
OMIM
|
5
|
0 |
0 |
0 |
0 |
0 |
5
|
Mendelics
|
0 |
0 |
4
|
0 |
1
|
0 |
5
|
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine
|
0 |
0 |
0 |
0 |
4
|
0 |
4
|
Centre for Mendelian Genomics, University Medical Centre Ljubljana
|
0 |
1
|
3
|
0 |
0 |
0 |
4
|
Center of Medical Genetics and Primary Health Care
|
0 |
0 |
2
|
1
|
0 |
0 |
3
|
Department of Pathology and Laboratory Medicine, Sinai Health System
|
0 |
0 |
3
|
0 |
0 |
0 |
3
|
Department of Pediatrics, Samsung Medical Center, Samsung Medical Center
|
0 |
0 |
3
|
0 |
0 |
0 |
3
|
Stewart Lab, University of Birmingham
|
0 |
2
|
0 |
0 |
0 |
0 |
2
|
GenomeConnect - Invitae Patient Insights Network
|
0 |
0 |
0 |
0 |
0 |
2
|
2
|
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein
|
0 |
0 |
2
|
0 |
0 |
0 |
2
|
Baylor Genetics
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Genome Diagnostics Laboratory, University Medical Center Utrecht
|
0 |
0 |
0 |
1
|
0 |
0 |
1
|
Genomic Research Center, Shahid Beheshti University of Medical Sciences
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Service de Génétique Moléculaire, Hôpital Robert Debré
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Vantari Genetics
|
0 |
0 |
0 |
0 |
1
|
0 |
1
|
Database of Curated Mutations (DoCM)
|
0 |
0 |
0 |
0 |
0 |
1
|
1
|
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+
|
0 |
0 |
0 |
0 |
1
|
0 |
1
|
Pediatric Oncology, Johns Hopkins University
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
AiLife Diagnostics, AiLife Diagnostics
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
DASA
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
GenomeConnect - Brain Gene Registry
|
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.