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 |
46
|
32
|
318
|
380
|
88
|
3
|
794
|
Condition and significance breakdown #
Submitter and significance breakdown #
Submitter |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
not provided |
total |
Invitae
|
41
|
16
|
225
|
331
|
40
|
0 |
653
|
GeneDx
|
2
|
3
|
10
|
31
|
59
|
0 |
105
|
Illumina Laboratory Services, Illumina
|
0 |
0 |
53
|
10
|
10
|
0 |
73
|
Revvity Omics, Revvity
|
0 |
4
|
55
|
0 |
0 |
0 |
59
|
Ambry Genetics
|
0 |
0 |
50
|
0 |
0 |
0 |
50
|
PreventionGenetics, part of Exact Sciences
|
0 |
0 |
2
|
23
|
18
|
0 |
43
|
Eurofins Ntd Llc (ga)
|
0 |
0 |
6
|
6
|
2
|
0 |
14
|
CeGaT Center for Human Genetics Tuebingen
|
0 |
0 |
5
|
8
|
1
|
0 |
14
|
Genetic Services Laboratory, University of Chicago
|
1
|
1
|
2
|
4
|
5
|
0 |
13
|
Baylor Genetics
|
2
|
0 |
10
|
0 |
0 |
0 |
11
|
Athena Diagnostics Inc
|
0 |
0 |
5
|
1
|
4
|
0 |
10
|
OMIM
|
7
|
0 |
0 |
0 |
0 |
0 |
7
|
Women's Health and Genetics/Laboratory Corporation of America, LabCorp
|
0 |
1
|
1
|
2
|
0 |
0 |
4
|
Center for Molecular Medicine, Children’s Hospital of Fudan University
|
0 |
2
|
2
|
0 |
0 |
0 |
4
|
GenomeConnect - Invitae Patient Insights Network
|
0 |
0 |
0 |
0 |
0 |
3
|
3
|
Fulgent Genetics, Fulgent Genetics
|
0 |
0 |
1
|
1
|
0 |
0 |
2
|
Scripps Translational Science Institute, Scripps Health and The Scripps Research Institute
|
0 |
2
|
0 |
0 |
0 |
0 |
2
|
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden
|
0 |
0 |
2
|
0 |
0 |
0 |
2
|
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics
|
0 |
0 |
0 |
2
|
0 |
0 |
2
|
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+
|
1
|
0 |
0 |
0 |
1
|
0 |
2
|
Centre for Mendelian Genomics, University Medical Centre Ljubljana
|
0 |
2
|
0 |
0 |
0 |
0 |
2
|
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne
|
0 |
2
|
0 |
0 |
0 |
0 |
2
|
Genome Diagnostics Laboratory, Amsterdam University Medical Center
|
1
|
0 |
1
|
0 |
0 |
0 |
2
|
Genome-Nilou Lab
|
0 |
0 |
0 |
0 |
2
|
0 |
2
|
Mayo Clinic Laboratories, Mayo Clinic
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Diagnostics Division, CENTRE FOR DNA FINGERPRINTING AND DIAGNOSTICS
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Genetics and Molecular Pathology, SA Pathology
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen
|
0 |
0 |
0 |
0 |
1
|
0 |
1
|
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Neuberg Centre For Genomic Medicine, NCGM
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
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