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 |
3
|
1
|
72
|
50
|
20
|
2
|
120
|
Condition and significance breakdown #
Submitter and significance breakdown #
Submitter |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
not provided |
total |
Invitae
|
2
|
0 |
52
|
35
|
8
|
0 |
97
|
GeneDx
|
2
|
0 |
8
|
12
|
16
|
0 |
38
|
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine
|
1
|
0 |
2
|
8
|
4
|
0 |
15
|
Illumina Laboratory Services, Illumina
|
1
|
0 |
9
|
2
|
2
|
0 |
12
|
Revvity Omics, Revvity
|
1
|
1
|
8
|
0 |
0 |
0 |
10
|
Ambry Genetics
|
1
|
0 |
4
|
1
|
3
|
0 |
9
|
PreventionGenetics, part of Exact Sciences
|
1
|
0 |
0 |
3
|
5
|
0 |
9
|
CeGaT Center for Human Genetics Tuebingen
|
2
|
0 |
2
|
3
|
2
|
0 |
9
|
Clinical Genetics, Academic Medical Center
|
0 |
0 |
0 |
1
|
6
|
0 |
7
|
Cytogenetics- Mohapatra Lab, Banaras Hindu University
|
0 |
0 |
3
|
0 |
2
|
0 |
5
|
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+
|
0 |
0 |
1
|
1
|
3
|
0 |
5
|
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center
|
0 |
0 |
1
|
3
|
1
|
0 |
5
|
OMIM
|
3
|
0 |
1
|
0 |
0 |
0 |
4
|
Athena Diagnostics Inc
|
2
|
0 |
0 |
0 |
2
|
0 |
4
|
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario
|
0 |
0 |
4
|
0 |
0 |
0 |
4
|
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)
|
0 |
0 |
0 |
4
|
0 |
0 |
4
|
Biesecker Lab/Clinical Genomics Section, National Institutes of Health
|
0 |
0 |
2
|
0 |
1
|
0 |
3
|
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories
|
0 |
0 |
1
|
0 |
2
|
0 |
3
|
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen
|
0 |
0 |
0 |
3
|
0 |
0 |
3
|
Genome Diagnostics Laboratory, University Medical Center Utrecht
|
0 |
0 |
0 |
1
|
1
|
0 |
2
|
Eurofins Ntd Llc (ga)
|
0 |
0 |
1
|
0 |
1
|
0 |
2
|
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute
|
1
|
0 |
1
|
0 |
0 |
0 |
2
|
Genomic Research Center, Shahid Beheshti University of Medical Sciences
|
0 |
0 |
2
|
0 |
0 |
0 |
2
|
Centogene AG - the Rare Disease Company
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Mendelics
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
GeneReviews
|
0 |
0 |
0 |
0 |
0 |
1
|
1
|
Mayo Clinic Laboratories, Mayo Clinic
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Fulgent Genetics, Fulgent Genetics
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Wellcome Centre for Mitochondrial Research, Newcastle University
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Agnes Ginges Centre for Molecular Cardiology, Centenary Institute
|
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
|
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, Montreal Heart Institute
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Genome Diagnostics Laboratory, Amsterdam University Medical Center
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Klaassen Lab, Charite University Medicine Berlin
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Center for Advanced Laboratory Medicine, UC San Diego Health, University of California San Diego
|
0 |
0 |
0 |
0 |
1
|
0 |
1
|
GenomeConnect - Invitae Patient Insights Network
|
0 |
0 |
0 |
0 |
0 |
1
|
1
|
Molecular Genetics, Royal Melbourne Hospital
|
0 |
1
|
0 |
0 |
0 |
0 |
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
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contained on this website, please see a health care
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