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 |
16
|
8
|
639
|
404
|
239
|
2
|
1168
|
Condition and significance breakdown #
Submitter and significance breakdown #
Submitter |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
not provided |
total |
Invitae
|
9
|
2
|
221
|
195
|
106
|
0 |
533
|
GeneDx
|
3
|
0 |
157
|
139
|
162
|
0 |
461
|
Illumina Laboratory Services, Illumina
|
0 |
0 |
136
|
29
|
49
|
0 |
214
|
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine
|
0 |
0 |
60
|
60
|
54
|
0 |
174
|
PreventionGenetics, part of Exact Sciences
|
0 |
0 |
22
|
37
|
32
|
0 |
91
|
CeGaT Center for Human Genetics Tuebingen
|
1
|
1
|
29
|
44
|
11
|
0 |
86
|
Ambry Genetics
|
0 |
0 |
73
|
1
|
0 |
0 |
74
|
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories
|
0 |
0 |
20
|
4
|
16
|
0 |
40
|
Eurofins Ntd Llc (ga)
|
0 |
0 |
20
|
3
|
14
|
0 |
37
|
Clinical Genetics, Academic Medical Center
|
0 |
0 |
6
|
8
|
16
|
0 |
30
|
Athena Diagnostics Inc
|
0 |
0 |
3
|
2
|
19
|
0 |
24
|
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center
|
0 |
0 |
5
|
10
|
3
|
0 |
18
|
Women's Health and Genetics/Laboratory Corporation of America, LabCorp
|
0 |
0 |
14
|
2
|
0 |
0 |
16
|
Mayo Clinic Laboratories, Mayo Clinic
|
0 |
0 |
16
|
0 |
0 |
0 |
16
|
Genome-Nilou Lab
|
0 |
0 |
0 |
0 |
15
|
0 |
15
|
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+
|
0 |
0 |
4
|
2
|
6
|
0 |
12
|
Fulgent Genetics, Fulgent Genetics
|
0 |
0 |
7
|
2
|
1
|
0 |
10
|
Centre for Mendelian Genomics, University Medical Centre Ljubljana
|
0 |
0 |
10
|
0 |
0 |
0 |
10
|
Baylor Genetics
|
0 |
0 |
9
|
0 |
0 |
0 |
9
|
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen
|
0 |
0 |
0 |
0 |
8
|
0 |
8
|
Department of Pathology and Laboratory Medicine, Sinai Health System
|
0 |
0 |
7
|
0 |
0 |
0 |
7
|
Department of Otolaryngology – Head & Neck Surgery, Cochlear Implant Center
|
0 |
0 |
6
|
0 |
1
|
0 |
7
|
OMIM
|
6
|
0 |
0 |
0 |
0 |
0 |
6
|
Revvity Omics, Revvity
|
0 |
1
|
4
|
1
|
0 |
0 |
6
|
Genomic Research Center, Shahid Beheshti University of Medical Sciences
|
0 |
0 |
4
|
1
|
0 |
1
|
6
|
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics
|
0 |
0 |
3
|
3
|
0 |
0 |
6
|
Miami Human Genetics, University Of Miami Miller School Of Medicine
|
0 |
2
|
3
|
0 |
0 |
0 |
5
|
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)
|
0 |
0 |
0 |
5
|
0 |
0 |
5
|
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine
|
1
|
0 |
2
|
0 |
0 |
0 |
3
|
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute
|
0 |
0 |
2
|
0 |
0 |
0 |
2
|
Division of Human Genetics, Children's Hospital of Philadelphia
|
0 |
0 |
2
|
0 |
0 |
0 |
2
|
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues
|
0 |
0 |
2
|
0 |
0 |
0 |
2
|
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine
|
0 |
0 |
2
|
0 |
0 |
0 |
2
|
Institute of Human Genetics, University of Goettingen
|
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
|
MGZ Medical Genetics Center
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Mendelics
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Baylor-Hopkins Center for Mendelian Genomics, Johns Hopkins University School of Medicine
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Institute of Human Genetics, University of Leipzig Medical Center
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Santos-Cortez Lab, University of Colorado School of Medicine
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Wangler Lab, Baylor College of Medicine
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
GenomeConnect, ClinGen
|
0 |
0 |
0 |
0 |
0 |
1
|
1
|
Kariminejad - Najmabadi Pathology & Genetics Center
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
UNC Molecular Genetics Laboratory, University of North Carolina at Chapel Hill
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Laboratory of Medical Genetics, National & Kapodistrian University of Athens
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Al Jalila Children's Genomics Center, Al Jalila Childrens Speciality Hospital
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Institute of Human Genetics, University Hospital Muenster
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
New York Genome Center
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Deafness Molecular Diagnostic Center, Chinese PLA General Hospital
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Laboratório de Neurologia Aplicada e Experimental, Faculdade de Medicina de Ribeirao Preto – Universidade de Sao Paulo
|
0 |
0 |
1
|
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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health behavior solely on the basis of information contained on
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