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 |
102
|
68
|
621
|
330
|
186
|
4
|
1037
|
Condition and significance breakdown #
Submitter and significance breakdown #
Submitter |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
not provided |
total |
Invitae
|
40
|
19
|
297
|
182
|
45
|
0 |
583
|
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics
|
40
|
15
|
356
|
26
|
61
|
0 |
498
|
GeneDx
|
12
|
11
|
33
|
105
|
85
|
0 |
246
|
Illumina Clinical Services Laboratory,Illumina
|
1
|
4
|
65
|
101
|
94
|
0 |
196
|
PreventionGenetics,PreventionGenetics
|
0 |
0 |
0 |
37
|
34
|
0 |
71
|
CeGaT Praxis fuer Humangenetik Tuebingen
|
7
|
4
|
19
|
7
|
0 |
0 |
37
|
Genetic Services Laboratory,University of Chicago
|
0 |
3
|
3
|
10
|
8
|
0 |
24
|
OMIM
|
21
|
0 |
0 |
0 |
0 |
0 |
21
|
Athena Diagnostics Inc
|
1
|
1
|
1
|
1
|
13
|
0 |
17
|
Mendelics
|
3
|
1
|
1
|
1
|
4
|
0 |
10
|
Genomic Research Center, Shahid Beheshti University of Medical Sciences
|
1
|
1
|
3
|
1
|
0 |
0 |
6
|
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics
|
0 |
1
|
1
|
4
|
0 |
0 |
6
|
Ambry Genetics
|
2
|
0 |
2
|
0 |
0 |
0 |
4
|
Center for Genetic Medicine Research,Children's National Medical Center
|
0 |
1
|
3
|
0 |
0 |
0 |
4
|
GenomeConnect, ClinGen
|
0 |
0 |
0 |
0 |
0 |
4
|
4
|
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine
|
1
|
0 |
0 |
1
|
1
|
0 |
3
|
Fulgent Genetics,Fulgent Genetics
|
0 |
0 |
3
|
0 |
0 |
0 |
3
|
NeuroMeGen,Hospital Clinico Santiago de Compostela
|
0 |
3
|
0 |
0 |
0 |
0 |
3
|
Centre for Mendelian Genomics,University Medical Centre Ljubljana
|
1
|
1
|
1
|
0 |
0 |
0 |
3
|
Neuromuscular Department, Shariati Hospital, Tehran University of Medical Sciences
|
0 |
0 |
3
|
0 |
0 |
0 |
3
|
Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics,Cincinnati Children's Hospital Medical Center
|
0 |
0 |
0 |
0 |
2
|
0 |
2
|
Centogene AG - the Rare Disease Company
|
1
|
1
|
0 |
0 |
0 |
0 |
2
|
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic
|
0 |
0 |
2
|
0 |
0 |
0 |
2
|
Institute of Human Genetics, University of Leipzig Medical Center
|
0 |
1
|
0 |
0 |
1
|
0 |
2
|
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City
|
1
|
0 |
1
|
0 |
0 |
0 |
2
|
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics,Children's Hospital of Philadelphia
|
0 |
0 |
0 |
0 |
1
|
0 |
1
|
Institute of Human Genetics,Cologne University
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Developmental Genetics Unit,King Faisal Specialist Hospital & Research Centre
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
UCLA Clinical Genomics Center, UCLA
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Division of Human Genetics,Children's Hospital of Philadelphia
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Diagnostics Division,Centre for DNA Fingerprinting and Diagnostics
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
CHLA Center for Personalized Medicine,Children's Hospital, Los Angeles
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Kariminejad - Najmabadi Pathology & Genetics Center
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Hacettepe Genetic Diseases Diagnosis Center,Hacettepe University Faculty of Medicine
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Broad Institute Rare Disease Group,Broad Institute
|
0 |
0 |
0 |
0 |
1
|
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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