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 |
association |
not provided |
total |
118
|
41
|
2241
|
1202
|
287
|
1
|
6
|
3732
|
Condition and significance breakdown #
Submitter and significance breakdown #
Submitter |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
association |
not provided |
total |
Invitae
|
93
|
24
|
1907
|
937
|
142
|
0 |
0 |
3103
|
Ambry Genetics
|
8
|
1
|
444
|
30
|
0 |
0 |
0 |
483
|
GeneDx
|
4
|
6
|
47
|
163
|
164
|
0 |
0 |
384
|
CeGaT Center for Human Genetics Tuebingen
|
1
|
2
|
50
|
94
|
5
|
0 |
0 |
152
|
Illumina Laboratory Services, Illumina
|
0 |
0 |
75
|
16
|
6
|
0 |
0 |
97
|
PreventionGenetics, part of Exact Sciences
|
0 |
0 |
8
|
69
|
17
|
0 |
0 |
94
|
Mayo Clinic Laboratories, Mayo Clinic
|
0 |
0 |
58
|
0 |
0 |
0 |
0 |
58
|
Clinical Genetics, Academic Medical Center
|
0 |
0 |
10
|
16
|
13
|
0 |
0 |
39
|
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center
|
0 |
0 |
10
|
16
|
3
|
0 |
0 |
29
|
Baylor Genetics
|
0 |
0 |
13
|
0 |
0 |
0 |
0 |
13
|
Genome Diagnostics Laboratory, University Medical Center Utrecht
|
0 |
0 |
0 |
12
|
0 |
0 |
0 |
12
|
OMIM
|
9
|
0 |
0 |
0 |
0 |
0 |
0 |
9
|
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen
|
0 |
0 |
1
|
1
|
6
|
0 |
0 |
8
|
Genome-Nilou Lab
|
0 |
0 |
0 |
0 |
7
|
0 |
0 |
7
|
Revvity Omics, Revvity
|
3
|
1
|
1
|
0 |
0 |
0 |
0 |
5
|
GenomeConnect - Invitae Patient Insights Network
|
0 |
0 |
0 |
0 |
0 |
0 |
5
|
5
|
Fulgent Genetics, Fulgent Genetics
|
0 |
0 |
0 |
4
|
0 |
0 |
0 |
4
|
Genomic Research Center, Shahid Beheshti University of Medical Sciences
|
0 |
1
|
3
|
0 |
0 |
0 |
0 |
4
|
3billion
|
3
|
1
|
0 |
0 |
0 |
0 |
0 |
4
|
Inherited Neuropathy Consortium Ii, University Of Miami
|
0 |
0 |
4
|
0 |
0 |
0 |
0 |
4
|
Inherited Neuropathy Consortium
|
0 |
1
|
2
|
0 |
0 |
0 |
0 |
3
|
Al Jalila Children's Genomics Center, Al Jalila Childrens Speciality Hospital
|
0 |
0 |
1
|
2
|
0 |
0 |
0 |
3
|
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine
|
0 |
0 |
2
|
0 |
0 |
0 |
0 |
2
|
Centogene AG - the Rare Disease Company
|
0 |
0 |
2
|
0 |
0 |
0 |
0 |
2
|
Women's Health and Genetics/Laboratory Corporation of America, LabCorp
|
0 |
0 |
2
|
0 |
0 |
0 |
0 |
2
|
University of Washington Center for Mendelian Genomics, University of Washington
|
0 |
1
|
0 |
0 |
0 |
1
|
0 |
2
|
NeuroMeGen, Hospital Clinico Santiago de Compostela
|
1
|
1
|
0 |
0 |
0 |
0 |
0 |
2
|
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics
|
0 |
0 |
1
|
1
|
0 |
0 |
0 |
2
|
Department of Pathology and Laboratory Medicine, Sinai Health System
|
0 |
0 |
1
|
0 |
1
|
0 |
0 |
2
|
Medical Genetics Unit, University of L'Aquila
|
0 |
2
|
0 |
0 |
0 |
0 |
0 |
2
|
Eurofins Ntd Llc (ga)
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Institute Of Human Genetics Munich, Klinikum Rechts Der Isar, Tu München
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Clinical Genetics, Erasmus University Medical Center
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+
|
0 |
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Centre for Mendelian Genomics, University Medical Centre Ljubljana
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
1
|
GenomeConnect, ClinGen
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
1
|
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Breda Genetics srl
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
1
|
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