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 |
152
|
55
|
123
|
155
|
35
|
2
|
458
|
Condition and significance breakdown #
Submitter and significance breakdown #
Submitter |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
not provided |
total |
Invitae
|
105
|
19
|
80
|
123
|
23
|
0 |
350
|
Ambry Genetics
|
56
|
12
|
16
|
34
|
3
|
0 |
121
|
GeneDx
|
17
|
7
|
7
|
13
|
12
|
0 |
56
|
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories
|
20
|
1
|
8
|
4
|
9
|
0 |
42
|
NIHR Bioresource Rare Diseases, University of Cambridge
|
16
|
6
|
0 |
3
|
0 |
0 |
25
|
Mayo Clinic Laboratories, Mayo Clinic
|
9
|
4
|
5
|
0 |
0 |
0 |
18
|
Illumina Laboratory Services, Illumina
|
0 |
0 |
10
|
6
|
2
|
0 |
18
|
PreventionGenetics, part of Exact Sciences
|
2
|
4
|
2
|
6
|
1
|
0 |
15
|
Genetic Services Laboratory, University of Chicago
|
2
|
1
|
4
|
1
|
0 |
0 |
8
|
Fulgent Genetics, Fulgent Genetics
|
0 |
3
|
4
|
1
|
0 |
0 |
8
|
CeGaT Center for Human Genetics Tuebingen
|
1
|
1
|
0 |
5
|
1
|
0 |
8
|
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute
|
5
|
0 |
1
|
0 |
0 |
0 |
6
|
Eurofins Ntd Llc (ga)
|
1
|
0 |
2
|
0 |
2
|
0 |
5
|
CSER _CC_NCGL, University of Washington
|
1
|
0 |
3
|
0 |
0 |
0 |
4
|
Molecular Genetics, Royal Melbourne Hospital
|
3
|
1
|
0 |
0 |
0 |
0 |
4
|
Rare Disease Genomics Group, St George's University of London
|
4
|
0 |
0 |
0 |
0 |
0 |
4
|
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine
|
0 |
0 |
3
|
0 |
0 |
0 |
3
|
Clinical Genetics, Academic Medical Center
|
0 |
0 |
0 |
2
|
1
|
0 |
3
|
Genome Diagnostics Laboratory, Amsterdam University Medical Center
|
0 |
0 |
0 |
1
|
2
|
0 |
3
|
Seattle Children's Hospital Molecular Genetics Laboratory, Seattle Children's Hospital
|
2
|
0 |
1
|
0 |
0 |
0 |
3
|
OMIM
|
2
|
0 |
0 |
0 |
0 |
0 |
2
|
Baylor Genetics
|
1
|
0 |
1
|
0 |
0 |
0 |
2
|
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center
|
0 |
2
|
0 |
0 |
0 |
0 |
2
|
Women's Health and Genetics/Laboratory Corporation of America, LabCorp
|
0 |
0 |
0 |
1
|
1
|
0 |
2
|
Center of Genomic medicine, Geneva, University Hospital of Geneva
|
1
|
1
|
0 |
0 |
0 |
0 |
2
|
Genetics, Medical University of Vienna
|
0 |
2
|
0 |
0 |
0 |
0 |
2
|
Revvity Omics, Revvity
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
John Welsh Cardiovascular Diagnostic Laboratory, Baylor College of Medicine
|
0 |
0 |
0 |
0 |
1
|
0 |
1
|
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Centre for Mendelian Genomics, University Medical Centre Ljubljana
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen
|
0 |
0 |
0 |
1
|
0 |
0 |
1
|
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)
|
0 |
0 |
0 |
1
|
0 |
0 |
1
|
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center
|
0 |
0 |
0 |
1
|
0 |
0 |
1
|
Wendy Chung Laboratory, Columbia University Medical Center
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
deCODE genetics, Amgen
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
3billion
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
GenomeConnect - Invitae Patient Insights Network
|
0 |
0 |
0 |
0 |
0 |
1
|
1
|
GenomeConnect - Brain Gene Registry
|
0 |
0 |
0 |
0 |
0 |
1
|
1
|
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health behavior solely on the basis of information contained on
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Institutes of Health independently verfies the submitted
information. If you have questions about the information
contained on this website, please see a health care
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