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 |
151
|
181
|
442
|
855
|
74
|
5
|
1533
|
Condition and significance breakdown #
Submitter and significance breakdown #
Submitter |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
not provided |
total |
Invitae
|
124
|
45
|
279
|
810
|
40
|
0 |
1298
|
Genome-Nilou Lab
|
49
|
8
|
13
|
28
|
11
|
0 |
109
|
Natera, Inc.
|
14
|
2
|
48
|
18
|
25
|
0 |
107
|
Illumina Laboratory Services, Illumina
|
1
|
1
|
71
|
7
|
18
|
0 |
98
|
Baylor Genetics
|
23
|
52
|
3
|
0 |
0 |
0 |
78
|
GeneDx
|
7
|
1
|
13
|
20
|
33
|
0 |
74
|
Counsyl
|
4
|
43
|
11
|
2
|
0 |
0 |
60
|
Ambry Genetics
|
4
|
1
|
42
|
2
|
0 |
0 |
49
|
Myriad Genetics, Inc.
|
2
|
46
|
0 |
0 |
0 |
0 |
48
|
Women's Health and Genetics/Laboratory Corporation of America, LabCorp
|
15
|
7
|
11
|
2
|
6
|
0 |
41
|
ClinVar Staff, National Center for Biotechnology Information (NCBI)
|
0 |
0 |
36
|
0 |
0 |
0 |
36
|
Mayo Clinic Laboratories, Mayo Clinic
|
0 |
1
|
12
|
6
|
11
|
0 |
30
|
Eurofins Ntd Llc (ga)
|
5
|
0 |
13
|
3
|
7
|
0 |
28
|
Fulgent Genetics, Fulgent Genetics
|
3
|
4
|
13
|
3
|
4
|
0 |
27
|
PreventionGenetics, part of Exact Sciences
|
0 |
1
|
1
|
18
|
6
|
0 |
26
|
CeGaT Center for Human Genetics Tuebingen
|
1
|
4
|
4
|
15
|
1
|
0 |
25
|
Revvity Omics, Revvity
|
6
|
1
|
5
|
0 |
0 |
0 |
12
|
Clinical Genetics, Academic Medical Center
|
0 |
0 |
0 |
0 |
11
|
0 |
11
|
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center
|
0 |
0 |
0 |
9
|
0 |
0 |
9
|
OMIM
|
7
|
0 |
0 |
0 |
0 |
0 |
7
|
Genetic Services Laboratory, University of Chicago
|
1
|
1
|
0 |
4
|
0 |
0 |
6
|
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine
|
1
|
1
|
0 |
0 |
3
|
0 |
5
|
Genome Diagnostics Laboratory, University Medical Center Utrecht
|
0 |
0 |
0 |
5
|
0 |
0 |
5
|
GeneReviews
|
0 |
0 |
0 |
0 |
0 |
5
|
5
|
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille
|
0 |
2
|
0 |
3
|
0 |
0 |
5
|
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics
|
0 |
0 |
1
|
1
|
2
|
0 |
4
|
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne
|
2
|
2
|
0 |
0 |
0 |
0 |
4
|
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen
|
0 |
0 |
0 |
1
|
3
|
0 |
4
|
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center
|
3
|
0 |
0 |
0 |
0 |
0 |
3
|
MGZ Medical Genetics Center
|
2
|
1
|
0 |
0 |
0 |
0 |
3
|
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen
|
2
|
1
|
0 |
0 |
0 |
0 |
3
|
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)
|
0 |
0 |
0 |
3
|
0 |
0 |
3
|
Centogene AG - the Rare Disease Company
|
1
|
1
|
0 |
0 |
0 |
0 |
2
|
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute
|
2
|
0 |
0 |
0 |
0 |
0 |
2
|
SingHealth Duke-NUS Institute of Precision Medicine
|
2
|
0 |
0 |
0 |
0 |
0 |
2
|
Génétique des Maladies du Développement, Hospices Civils de Lyon
|
2
|
0 |
0 |
0 |
0 |
0 |
2
|
3billion
|
1
|
0 |
1
|
0 |
0 |
0 |
2
|
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia
|
0 |
0 |
0 |
0 |
1
|
0 |
1
|
Genomic Research Center, Shahid Beheshti University of Medical Sciences
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Department of Medical Genetics, Oslo University Hospital
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Centre for Mendelian Genomics, University Medical Centre Ljubljana
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Caryl and Israel Englander Institute for Precision Medicine, Weill Cornell Medicine
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Institute of Human Genetics, University of Leipzig Medical Center
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Sharon lab, Hadassah-Hebrew University Medical Center
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Department Of Genetics, Sultan Qaboos University Hospital, Sultan Qaboos University
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
NxGen MDx
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
New York Genome Center
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Molecular Genetics Lab, CHRU Brest
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Suma Genomics
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
DASA
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Molecular Genetics, Royal Melbourne Hospital
|
0 |
1
|
0 |
0 |
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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