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 |
98
|
58
|
328
|
187
|
26
|
11
|
631
|
Condition and significance breakdown #
Submitter and significance breakdown #
Submitter |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
not provided |
total |
Invitae
|
67
|
14
|
259
|
142
|
7
|
0 |
488
|
Ambry Genetics
|
44
|
20
|
123
|
61
|
4
|
0 |
252
|
GeneDx
|
12
|
9
|
26
|
10
|
16
|
0 |
73
|
Illumina Laboratory Services, Illumina
|
0 |
0 |
20
|
7
|
7
|
0 |
34
|
Quest Diagnostics Nichols Institute San Juan Capistrano
|
1
|
1
|
16
|
6
|
4
|
0 |
28
|
OMIM
|
22
|
0 |
2
|
0 |
0 |
0 |
24
|
Baylor Genetics
|
1
|
2
|
20
|
0 |
0 |
0 |
23
|
Section on Medical Neuroendocrinolgy, National Institutes of Health
|
12
|
2
|
5
|
0 |
0 |
0 |
19
|
Sema4, Sema4
|
2
|
1
|
5
|
4
|
3
|
0 |
15
|
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories
|
4
|
1
|
3
|
0 |
5
|
0 |
13
|
PreventionGenetics, part of Exact Sciences
|
0 |
1
|
3
|
5
|
4
|
0 |
13
|
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine
|
3
|
1
|
3
|
1
|
4
|
0 |
12
|
Women's Health and Genetics/Laboratory Corporation of America, LabCorp
|
3
|
2
|
2
|
1
|
2
|
0 |
10
|
Fulgent Genetics, Fulgent Genetics
|
2
|
1
|
5
|
1
|
0 |
0 |
9
|
Genetic Services Laboratory, University of Chicago
|
1
|
0 |
4
|
2
|
1
|
0 |
8
|
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital
|
1
|
0 |
0 |
5
|
2
|
0 |
8
|
CeGaT Center for Human Genetics Tuebingen
|
0 |
1
|
2
|
3
|
0 |
0 |
6
|
MGZ Medical Genetics Center
|
1
|
3
|
1
|
0 |
0 |
0 |
5
|
GeneReviews
|
0 |
0 |
0 |
0 |
0 |
5
|
5
|
ITMI
|
0 |
0 |
0 |
0 |
0 |
5
|
5
|
Color Diagnostics, LLC DBA Color Health
|
1
|
0 |
1
|
0 |
3
|
0 |
5
|
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+
|
3
|
0 |
0 |
1
|
1
|
0 |
5
|
St. Jude Molecular Pathology, St. Jude Children's Research Hospital
|
0 |
0 |
5
|
0 |
0 |
0 |
5
|
Revvity Omics, Revvity
|
1
|
1
|
2
|
0 |
0 |
0 |
4
|
KCCC/NGS Laboratory, Kuwait Cancer Control Center
|
0 |
0 |
0 |
0 |
4
|
0 |
4
|
Center for Human Genetics, Inc, Center for Human Genetics, Inc
|
3
|
0 |
0 |
0 |
0 |
0 |
3
|
Genome Diagnostics Laboratory, University Medical Center Utrecht
|
2
|
0 |
0 |
0 |
1
|
0 |
3
|
Genetics and Molecular Pathology, SA Pathology
|
3
|
0 |
0 |
0 |
0 |
0 |
3
|
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen
|
1
|
0 |
0 |
1
|
1
|
0 |
3
|
Genome Diagnostics Laboratory, Amsterdam University Medical Center
|
1
|
0 |
0 |
1
|
1
|
0 |
3
|
Myriad Genetics, Inc.
|
3
|
0 |
0 |
0 |
0 |
0 |
3
|
Genome-Nilou Lab
|
0 |
0 |
0 |
0 |
3
|
0 |
3
|
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center
|
1
|
1
|
0 |
0 |
0 |
0 |
2
|
Biesecker Lab/Clinical Genomics Section, National Institutes of Health
|
0 |
0 |
2
|
0 |
0 |
0 |
2
|
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia
|
0 |
0 |
1
|
0 |
1
|
0 |
2
|
Mayo Clinic Laboratories, Mayo Clinic
|
1
|
1
|
0 |
0 |
0 |
0 |
2
|
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden
|
1
|
1
|
0 |
0 |
0 |
0 |
2
|
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen
|
0 |
2
|
0 |
0 |
0 |
0 |
2
|
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center
|
0 |
0 |
0 |
2
|
0 |
0 |
2
|
3billion
|
0 |
2
|
0 |
0 |
0 |
0 |
2
|
Institute of Human Genetics, Cologne University
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Mendelics
|
0 |
0 |
0 |
1
|
0 |
0 |
1
|
Eurofins Ntd Llc (ga)
|
0 |
0 |
0 |
0 |
1
|
0 |
1
|
Endocrinology Clinic, Seth G.S. Medical College
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Wellcome Centre for Mitochondrial Research, Newcastle University
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Genomic Research Center, Shahid Beheshti University of Medical Sciences
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
UCLA Clinical Genomics Center, UCLA
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
CSER _CC_NCGL, University of Washington
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics
|
0 |
0 |
0 |
1
|
0 |
0 |
1
|
Undiagnosed Diseases Network, NIH
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Genetics, Medical University of Vienna
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Institute of Human Genetics, University of Leipzig Medical Center
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Department of Pediatrics, Memorial Sloan Kettering Cancer Center
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
GenomeConnect, ClinGen
|
0 |
0 |
0 |
0 |
0 |
1
|
1
|
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)
|
0 |
0 |
0 |
0 |
1
|
0 |
1
|
Cancer Variant Interpretation Group UK, Institute of Cancer Research, London
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Gharavi Laboratory, Columbia University
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
University of Washington Department of Laboratory Medicine, University of Washington
|
0 |
0 |
0 |
1
|
0 |
0 |
1
|
deCODE genetics, Amgen
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Division of Medical Genetics, University of Washington
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Department of Pediatrics, Samsung Medical Center, Samsung Medical Center
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Rare Disease Group, University of Exeter
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Molecular Genetics laboratory, Necker Hospital
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
New York Genome Center
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
AiLife Diagnostics, AiLife Diagnostics
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
GenomeConnect - Invitae Patient Insights Network
|
0 |
0 |
0 |
0 |
0 |
1
|
1
|
Division of Human Genetics, National Health Laboratory Service/University of the Witwatersrand
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
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