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 |
33
|
15
|
654
|
323
|
38
|
2
|
981
|
Condition and significance breakdown #
Submitter and significance breakdown #
Submitter |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
not provided |
total |
Invitae
|
30
|
0 |
514
|
301
|
32
|
0 |
877
|
Illumina Laboratory Services, Illumina
|
0 |
0 |
90
|
5
|
9
|
0 |
104
|
Dept Of Ophthalmology, Nagoya University
|
1
|
3
|
48
|
13
|
5
|
0 |
70
|
Ambry Genetics
|
0 |
0 |
66
|
1
|
0 |
0 |
67
|
ClinVar Staff, National Center for Biotechnology Information (NCBI)
|
1
|
0 |
38
|
0 |
0 |
0 |
39
|
Eurofins Ntd Llc (ga)
|
0 |
0 |
16
|
2
|
4
|
0 |
22
|
PreventionGenetics, part of Exact Sciences
|
0 |
1
|
0 |
19
|
0 |
0 |
20
|
CeGaT Center for Human Genetics Tuebingen
|
0 |
1
|
10
|
6
|
1
|
0 |
18
|
GeneDx
|
0 |
1
|
6
|
0 |
0 |
0 |
7
|
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center
|
0 |
0 |
1
|
5
|
1
|
0 |
7
|
Clinical Genetics, Academic Medical Center
|
0 |
0 |
0 |
1
|
4
|
0 |
5
|
Blueprint Genetics
|
0 |
1
|
4
|
0 |
0 |
0 |
5
|
Revvity Omics, Revvity
|
0 |
0 |
4
|
0 |
0 |
0 |
4
|
Fulgent Genetics, Fulgent Genetics
|
0 |
0 |
1
|
3
|
0 |
0 |
4
|
Molecular Genetics Laboratory, Institute for Ophthalmic Research
|
2
|
0 |
0 |
0 |
0 |
0 |
2
|
Institute Of Human Genetics Munich, Klinikum Rechts Der Isar, Tu München
|
0 |
2
|
0 |
0 |
0 |
0 |
2
|
Centre for Genomic Medicine, Manchester, Central Manchester University Hospitals
|
0 |
2
|
0 |
0 |
0 |
0 |
2
|
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+
|
0 |
0 |
1
|
0 |
1
|
0 |
2
|
Ocular Genomics Institute, Massachusetts Eye and Ear
|
1
|
1
|
0 |
0 |
0 |
0 |
2
|
Genome-Nilou Lab
|
0 |
0 |
0 |
0 |
2
|
0 |
2
|
3billion
|
2
|
0 |
0 |
0 |
0 |
0 |
2
|
GenomeConnect - Invitae Patient Insights Network
|
0 |
0 |
0 |
0 |
0 |
2
|
2
|
OMIM
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Mendelics
|
0 |
0 |
0 |
0 |
1
|
0 |
1
|
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Centre for Mendelian Genomics, University Medical Centre Ljubljana
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
NIHR Bioresource Rare Diseases, University of Cambridge
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Department of Pathology and Laboratory Medicine, Sinai Health System
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Sharon lab, Hadassah-Hebrew University Medical Center
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Breda Genetics srl
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Al Jalila Children's Genomics Center, Al Jalila Childrens Speciality Hospital
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Faculty of Health Sciences, Beirut Arab University
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Genomics England Pilot Project, Genomics England
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
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