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 |
141
|
75
|
1129
|
735
|
76
|
7
|
2021
|
Condition and significance breakdown #
Submitter and significance breakdown #
Submitter |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
not provided |
total |
Invitae
|
106
|
34
|
869
|
539
|
27
|
0 |
1575
|
Ambry Genetics
|
38
|
26
|
574
|
343
|
5
|
0 |
986
|
GeneDx
|
5
|
6
|
117
|
45
|
53
|
0 |
226
|
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital
|
0 |
3
|
20
|
44
|
7
|
0 |
74
|
Sema4, Sema4
|
1
|
4
|
17
|
20
|
2
|
0 |
44
|
Genetic Services Laboratory, University of Chicago
|
0 |
4
|
28
|
5
|
6
|
0 |
43
|
Quest Diagnostics Nichols Institute San Juan Capistrano
|
0 |
1
|
24
|
8
|
10
|
0 |
43
|
PreventionGenetics, part of Exact Sciences
|
1
|
0 |
7
|
11
|
3
|
0 |
22
|
OMIM
|
16
|
0 |
0 |
0 |
0 |
0 |
16
|
CeGaT Center for Human Genetics Tuebingen
|
0 |
3
|
4
|
4
|
2
|
0 |
13
|
St. Jude Molecular Pathology, St. Jude Children's Research Hospital
|
0 |
3
|
6
|
0 |
0 |
0 |
9
|
Bone Marrow Failure laboratory, Queen Mary University London
|
0 |
2
|
4
|
0 |
0 |
0 |
6
|
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center
|
0 |
0 |
1
|
4
|
0 |
0 |
5
|
The Telomere Center at Johns Hopkins, Johns Hopkins University School of Medicine
|
5
|
0 |
0 |
0 |
0 |
0 |
5
|
Revvity Omics, Revvity
|
0 |
0 |
4
|
0 |
0 |
0 |
4
|
Genome Diagnostics Laboratory, University Medical Center Utrecht
|
0 |
0 |
0 |
4
|
0 |
0 |
4
|
GenomeConnect - Invitae Patient Insights Network
|
0 |
0 |
0 |
0 |
0 |
4
|
4
|
GeneReviews
|
0 |
0 |
0 |
0 |
0 |
3
|
3
|
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen
|
0 |
0 |
1
|
0 |
2
|
0 |
3
|
Center of Human Genetics, Hôpital Erasme
|
0 |
3
|
0 |
0 |
0 |
0 |
3
|
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories
|
0 |
0 |
0 |
1
|
1
|
0 |
2
|
Mendelics
|
0 |
0 |
2
|
0 |
0 |
0 |
2
|
Fulgent Genetics, Fulgent Genetics
|
0 |
0 |
2
|
0 |
0 |
0 |
2
|
Laboratory of Medical Genetics Unit, Bambino Gesù Children's Hospital
|
0 |
1
|
1
|
0 |
0 |
0 |
2
|
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)
|
0 |
0 |
0 |
1
|
1
|
0 |
2
|
Genome Diagnostics Laboratory, Amsterdam University Medical Center
|
0 |
0 |
0 |
1
|
1
|
0 |
2
|
Clinical Genetics Laboratory, Department of Pathology, Netherlands Cancer Institute
|
0 |
0 |
0 |
0 |
2
|
0 |
2
|
Baylor Genetics
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
MGZ Medical Genetics Center
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Women's Health and Genetics/Laboratory Corporation of America, LabCorp
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Institute of Human Genetics, University of Leipzig Medical Center
|
0 |
0 |
0 |
1
|
0 |
0 |
1
|
Department of Pathology and Laboratory Medicine, Sinai Health System
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Johns Hopkins Genomics, Johns Hopkins University
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
University of Washington Department of Laboratory Medicine, University of Washington
|
0 |
0 |
0 |
1
|
0 |
0 |
1
|
Institute of Human Genetics, University Hospital Muenster
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Hauer Lab, Department Of Pediatric Oncology, Technical University Munich
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Molecular Genetics, Royal Melbourne Hospital
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
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