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 |
84
|
69
|
493
|
504
|
91
|
4
|
1124
|
Condition and significance breakdown #
Submitter and significance breakdown #
Submitter |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
not provided |
total |
Invitae
|
58
|
20
|
293
|
437
|
31
|
0 |
839
|
GeneDx
|
7
|
6
|
41
|
65
|
53
|
0 |
172
|
Eurofins Ntd Llc (ga)
|
14
|
1
|
107
|
3
|
13
|
0 |
138
|
Illumina Laboratory Services, Illumina
|
0 |
0 |
89
|
7
|
16
|
0 |
112
|
Revvity Omics, Revvity
|
4
|
3
|
90
|
0 |
0 |
0 |
97
|
Baylor Genetics
|
9
|
34
|
1
|
0 |
0 |
0 |
44
|
PreventionGenetics, part of Exact Sciences
|
1
|
2
|
0 |
23
|
12
|
0 |
38
|
Athena Diagnostics Inc
|
0 |
1
|
17
|
4
|
14
|
0 |
36
|
CeGaT Center for Human Genetics Tuebingen
|
1
|
1
|
16
|
11
|
1
|
0 |
30
|
Ambry Genetics
|
1
|
0 |
23
|
1
|
0 |
0 |
25
|
Women's Health and Genetics/Laboratory Corporation of America, LabCorp
|
1
|
4
|
16
|
0 |
0 |
0 |
21
|
Genetic Services Laboratory, University of Chicago
|
2
|
3
|
7
|
5
|
2
|
0 |
19
|
OMIM
|
17
|
0 |
0 |
0 |
0 |
0 |
17
|
Fulgent Genetics, Fulgent Genetics
|
2
|
1
|
12
|
1
|
0 |
0 |
16
|
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center
|
0 |
0 |
1
|
3
|
6
|
0 |
10
|
Clinical Genetics, Academic Medical Center
|
0 |
0 |
0 |
0 |
5
|
0 |
5
|
Mayo Clinic Laboratories, Mayo Clinic
|
0 |
1
|
4
|
0 |
0 |
0 |
5
|
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine
|
0 |
0 |
0 |
0 |
4
|
0 |
4
|
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+
|
0 |
0 |
0 |
1
|
3
|
0 |
4
|
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard
|
0 |
3
|
1
|
0 |
0 |
0 |
4
|
Genome-Nilou Lab
|
0 |
0 |
0 |
0 |
4
|
0 |
4
|
Center for Genetic Medicine Research, Children's National Medical Center
|
0 |
2
|
1
|
0 |
0 |
0 |
3
|
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen
|
0 |
0 |
1
|
0 |
2
|
0 |
3
|
Genomic Medicine Lab, University of California San Francisco
|
1
|
1
|
1
|
0 |
0 |
0 |
3
|
3billion
|
0 |
2
|
1
|
0 |
0 |
0 |
3
|
MGZ Medical Genetics Center
|
0 |
1
|
1
|
0 |
0 |
0 |
2
|
Genome Diagnostics Laboratory, University Medical Center Utrecht
|
0 |
0 |
0 |
2
|
0 |
0 |
2
|
Mendelics
|
0 |
0 |
2
|
0 |
0 |
0 |
2
|
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille
|
0 |
0 |
2
|
0 |
0 |
0 |
2
|
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India
|
0 |
0 |
2
|
0 |
0 |
0 |
2
|
SIB Swiss Institute of Bioinformatics
|
0 |
1
|
0 |
0 |
1
|
0 |
2
|
GenomeConnect, ClinGen
|
0 |
0 |
0 |
0 |
0 |
2
|
2
|
Department Of Translational Genomics (developmental Genetics Section), King Faisal Specialist Hospital & Research Centre
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Genomic Research Center, Shahid Beheshti University of Medical Sciences
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Institute of Human Genetics, University of Wuerzburg
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)
|
0 |
0 |
0 |
1
|
0 |
0 |
1
|
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Laboratorio de Biologia Molecular - Genetica, Hospital de Pediatria Garrahan
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
GenomeConnect - Invitae Patient Insights Network
|
0 |
0 |
0 |
0 |
0 |
1
|
1
|
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
GenomeConnect - Brain Gene Registry
|
0 |
0 |
0 |
0 |
0 |
1
|
1
|
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
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