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 |
|
11
|
20
|
1220
|
547
|
196
|
1
|
1805
|
Condition and significance breakdown #
Submitter and significance breakdown #
| Submitter |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
not provided |
total |
|
Ambry Genetics
|
0 |
0 |
656
|
278
|
0 |
0 |
934
|
|
Labcorp Genetics (formerly Invitae), Labcorp
|
7
|
0 |
553
|
236
|
84
|
0 |
880
|
|
GeneDx
|
2
|
2
|
343
|
58
|
102
|
0 |
507
|
|
Illumina Laboratory Services, Illumina
|
0 |
0 |
46
|
14
|
65
|
0 |
125
|
|
PreventionGenetics, part of Exact Sciences
|
1
|
1
|
38
|
51
|
25
|
0 |
116
|
|
Genetic Services Laboratory, University of Chicago
|
0 |
2
|
60
|
18
|
16
|
0 |
96
|
|
Breakthrough Genomics, Breakthrough Genomics
|
0 |
0 |
3
|
22
|
64
|
0 |
89
|
|
Genome-Nilou Lab
|
0 |
0 |
0 |
0 |
62
|
0 |
62
|
|
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories
|
0 |
0 |
3
|
12
|
27
|
0 |
42
|
|
St. Jude Molecular Pathology, St. Jude Children's Research Hospital
|
0 |
0 |
33
|
0 |
0 |
0 |
33
|
|
CeGaT Center for Human Genetics Tuebingen
|
2
|
2
|
3
|
13
|
6
|
0 |
26
|
|
Mayo Clinic Laboratories, Mayo Clinic
|
3
|
2
|
15
|
0 |
0 |
0 |
20
|
|
ISTH-SSC Genomics in Thrombosis and Hemostasis, KU Leuven, Center for Molecular and Vascular Biology
|
4
|
10
|
1
|
0 |
0 |
0 |
15
|
|
Women's Health and Genetics/Laboratory Corporation of America, LabCorp
|
1
|
0 |
10
|
3
|
0 |
0 |
14
|
|
NIHR Bioresource Rare Diseases, University of Cambridge
|
3
|
9
|
1
|
0 |
0 |
0 |
13
|
|
Fulgent Genetics, Fulgent Genetics
|
1
|
1
|
7
|
2
|
0 |
0 |
11
|
|
Department of Pathology and Laboratory Medicine, Sinai Health System
|
0 |
0 |
4
|
4
|
0 |
0 |
8
|
|
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas
|
2
|
0 |
5
|
0 |
0 |
0 |
7
|
|
Baylor Genetics
|
0 |
0 |
5
|
0 |
0 |
0 |
5
|
|
Genetics and Molecular Pathology, SA Pathology
|
0 |
2
|
1
|
1
|
1
|
0 |
5
|
|
Revvity Omics, Revvity
|
0 |
0 |
4
|
0 |
0 |
0 |
4
|
|
Genome Diagnostics Laboratory, University Medical Center Utrecht
|
0 |
0 |
0 |
3
|
1
|
0 |
4
|
|
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)
|
0 |
0 |
0 |
3
|
1
|
0 |
4
|
|
OMIM
|
3
|
0 |
0 |
0 |
0 |
0 |
3
|
|
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute
|
2
|
0 |
1
|
0 |
0 |
0 |
3
|
|
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre
|
0 |
2
|
0 |
0 |
1
|
0 |
3
|
|
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center
|
0 |
0 |
0 |
3
|
0 |
0 |
3
|
|
Mendelics
|
0 |
0 |
1
|
0 |
1
|
0 |
2
|
|
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago
|
0 |
0 |
1
|
1
|
0 |
0 |
2
|
|
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City
|
0 |
1
|
1
|
0 |
0 |
0 |
2
|
|
Neuberg Centre For Genomic Medicine, NCGM
|
0 |
0 |
2
|
0 |
0 |
0 |
2
|
|
Randwick Genomics Laboratory, Prince of Wales Hospital Sydney, Australia, New South Wales Health Pathology
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
|
Birmingham Platelet Group; University of Birmingham
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
|
Center of Genomic medicine, Geneva, University Hospital of Geneva
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
|
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
|
Next Generation Diagnostics, Novartis Institutes for BioMedical Research, Inc.
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
|
Centre for Mendelian Genomics, University Medical Centre Ljubljana
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
|
GenomeConnect, ClinGen
|
0 |
0 |
0 |
0 |
0 |
1
|
1
|
|
Genome Diagnostics Laboratory, Amsterdam University Medical Center
|
0 |
0 |
0 |
0 |
1
|
0 |
1
|
|
Johns Hopkins Genomics, Johns Hopkins University
|
0 |
0 |
0 |
1
|
0 |
0 |
1
|
|
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
|
Clinical Genetics Laboratory, Skane University Hospital Lund
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
|
Pittsburgh Clinical Genomics Laboratory, University of Pittsburgh Medical Center
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
|
Godley laboratory, The University of Chicago
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
|
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
|
Ledgerwood and Morison Labs, University of Otago
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
|
Dr.Nikuei Genetic Center
|
0 |
0 |
0 |
1
|
0 |
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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