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 |
|
474
|
228
|
2671
|
1547
|
101
|
45
|
4721
|
Condition and significance breakdown #
Submitter and significance breakdown #
| Submitter |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
not provided |
total |
|
Labcorp Genetics (formerly Invitae), Labcorp
|
309
|
70
|
1996
|
1227
|
36
|
0 |
3638
|
|
Ambry Genetics
|
224
|
50
|
1706
|
704
|
5
|
0 |
2689
|
|
Baylor Genetics
|
7
|
98
|
330
|
0 |
0 |
0 |
435
|
|
Myriad Genetics, Inc.
|
233
|
58
|
0 |
2
|
0 |
0 |
293
|
|
GeneDx
|
2
|
13
|
191
|
6
|
65
|
0 |
277
|
|
Quest Diagnostics Nichols Institute San Juan Capistrano
|
2
|
16
|
182
|
40
|
15
|
0 |
255
|
|
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital
|
1
|
9
|
79
|
132
|
4
|
0 |
225
|
|
Sema4, Sema4
|
0 |
8
|
125
|
38
|
3
|
0 |
174
|
|
Department of Pathology and Laboratory Medicine, Sinai Health System
|
5
|
2
|
62
|
35
|
3
|
0 |
107
|
|
PreventionGenetics, part of Exact Sciences
|
3
|
3
|
49
|
39
|
2
|
0 |
96
|
|
Fulgent Genetics, Fulgent Genetics
|
2
|
9
|
48
|
2
|
0 |
0 |
61
|
|
CeGaT Center for Human Genetics Tuebingen
|
6
|
4
|
7
|
34
|
1
|
0 |
52
|
|
St. Jude Molecular Pathology, St. Jude Children's Research Hospital
|
1
|
3
|
34
|
0 |
0 |
0 |
38
|
|
Dr. Peter K. Rogan Lab, Western University
|
0 |
0 |
0 |
0 |
0 |
36
|
36
|
|
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories
|
1
|
1
|
9
|
9
|
7
|
0 |
27
|
|
Mayo Clinic Laboratories, Mayo Clinic
|
0 |
0 |
8
|
5
|
5
|
0 |
18
|
|
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden
|
2
|
0 |
13
|
1
|
0 |
0 |
16
|
|
Breakthrough Genomics, Breakthrough Genomics
|
0 |
0 |
7
|
7
|
0 |
0 |
14
|
|
Genetic Services Laboratory, University of Chicago
|
0 |
2
|
5
|
4
|
2
|
0 |
13
|
|
GeneKor MSA
|
0 |
0 |
0 |
0 |
9
|
0 |
9
|
|
GenomeConnect - Invitae Patient Insights Network
|
0 |
0 |
0 |
0 |
0 |
8
|
8
|
|
Dasa
|
1
|
1
|
1
|
2
|
1
|
0 |
6
|
|
Mendelics
|
0 |
1
|
3
|
1
|
0 |
0 |
5
|
|
MGZ Medical Genetics Center
|
1
|
1
|
2
|
0 |
0 |
0 |
4
|
|
OMIM
|
4
|
0 |
0 |
0 |
0 |
0 |
4
|
|
Revvity Omics, Revvity
|
0 |
1
|
3
|
0 |
0 |
0 |
4
|
|
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre
|
0 |
1
|
1
|
1
|
0 |
0 |
3
|
|
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein
|
0 |
0 |
3
|
0 |
0 |
0 |
3
|
|
Laboratory of Medical Genetics Unit, Bambino Gesù Children's Hospital
|
0 |
0 |
3
|
0 |
0 |
0 |
3
|
|
ARUP Laboratories, Cytogenetics and Genomic Microarray, ARUP Laboratories
|
2
|
0 |
0 |
0 |
0 |
0 |
2
|
|
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center
|
0 |
0 |
0 |
2
|
0 |
0 |
2
|
|
Department of Human Genetics, Hannover Medical School
|
0 |
0 |
2
|
0 |
0 |
0 |
2
|
|
Laboratory of Genetics, Children's Clinical University Hospital Latvia
|
0 |
0 |
0 |
2
|
0 |
0 |
2
|
|
OLLIN Analises Genomicas, OLLIN
|
0 |
1
|
1
|
0 |
0 |
0 |
2
|
|
Bionano Laboratories
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
|
CENTOGENE GmbH and LLC - Guiding Precision Medicine
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
|
Clinical Genetics Laboratory, Department of Pathology, Netherlands Cancer Institute
|
0 |
0 |
0 |
1
|
0 |
0 |
1
|
|
Clinical Genetics, Academic Medical Center
|
0 |
0 |
0 |
1
|
0 |
0 |
1
|
|
Department of Pediatrics, Memorial Sloan Kettering Cancer Center
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
|
Dr. med. U. Finckh, Human Genetics, Eurofins MVZ
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
|
First Genomix Gene Laboratory, Genetic Diagnostics Department
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
|
GenomeConnect, ClinGen
|
0 |
0 |
0 |
0 |
0 |
1
|
1
|
|
Helix
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
|
Institute for Biomarker Research, Medical Diagnostic Laboratories, L.L.C.
|
0 |
0 |
0 |
0 |
1
|
0 |
1
|
|
Institute for Genomic Medicine (IGM) Clinical Laboratory, Nationwide Children's Hospital
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
|
Johns Hopkins Genomics, Johns Hopkins University
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
|
Juno Genomics, Hangzhou Juno Genomics, Inc
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
|
Neuberg Centre For Genomic Medicine, NCGM
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
|
Oncological Genetic Counseling Clinic, "Carlo Poma" Hospital
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
|
Praxis Für Humangenetik, Biosciencia MVZ Labor Saar
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
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