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 |
|
115
|
51
|
1175
|
1013
|
239
|
41
|
2530
|
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
|
105
|
23
|
927
|
955
|
101
|
0 |
2111
|
|
Ambry Genetics
|
1
|
1
|
428
|
26
|
0 |
0 |
456
|
|
GeneDx
|
0 |
2
|
42
|
0 |
163
|
0 |
207
|
|
Breakthrough Genomics, Breakthrough Genomics
|
0 |
0 |
12
|
16
|
128
|
0 |
156
|
|
PreventionGenetics, part of Exact Sciences
|
0 |
4
|
14
|
67
|
13
|
0 |
98
|
|
Revvity Omics, Revvity
|
1
|
6
|
75
|
3
|
0 |
0 |
85
|
|
CeGaT Center for Human Genetics Tuebingen
|
0 |
0 |
18
|
38
|
2
|
0 |
58
|
|
Dr. Peter K. Rogan Lab, Western University
|
0 |
0 |
0 |
0 |
0 |
33
|
33
|
|
Mayo Clinic Laboratories, Mayo Clinic
|
0 |
0 |
16
|
0 |
11
|
0 |
27
|
|
Genome-Nilou Lab
|
0 |
0 |
0 |
0 |
14
|
0 |
14
|
|
Women's Health and Genetics/Laboratory Corporation of America, LabCorp
|
5
|
1
|
5
|
2
|
0 |
0 |
13
|
|
Baylor Genetics
|
0 |
2
|
7
|
0 |
0 |
0 |
9
|
|
Fulgent Genetics, Fulgent Genetics
|
0 |
0 |
6
|
2
|
0 |
0 |
8
|
|
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre
|
0 |
1
|
5
|
1
|
0 |
0 |
7
|
|
Department of Pathology and Laboratory Medicine, Sinai Health System
|
0 |
2
|
4
|
0 |
0 |
0 |
6
|
|
GenomeConnect - Invitae Patient Insights Network
|
0 |
0 |
0 |
0 |
0 |
6
|
6
|
|
OMIM
|
5
|
0 |
0 |
0 |
0 |
0 |
5
|
|
Genomic Research Center, Shahid Beheshti University of Medical Sciences
|
0 |
1
|
2
|
1
|
0 |
0 |
4
|
|
Juno Genomics, Hangzhou Juno Genomics, Inc
|
0 |
1
|
3
|
0 |
0 |
0 |
4
|
|
3billion
|
1
|
2
|
0 |
0 |
0 |
0 |
3
|
|
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics
|
0 |
0 |
3
|
0 |
0 |
0 |
3
|
|
Division of Medical Genetics, Department of Pediatrics, All India Institute of Medical Sciences, New Delhi
|
2
|
1
|
0 |
0 |
0 |
0 |
3
|
|
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein
|
0 |
1
|
1
|
1
|
0 |
0 |
3
|
|
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine
|
0 |
1
|
2
|
0 |
0 |
0 |
3
|
|
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City
|
0 |
1
|
1
|
0 |
0 |
0 |
2
|
|
Cambridge Genomics Laboratory, East Genomic Laboratory Hub, NHS Genomic Medicine Service
|
0 |
0 |
0 |
0 |
2
|
0 |
2
|
|
First Genomix Gene Laboratory, Genetic Diagnostics Department
|
0 |
2
|
0 |
0 |
0 |
0 |
2
|
|
GenomeConnect, ClinGen
|
0 |
0 |
0 |
0 |
0 |
2
|
2
|
|
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center
|
0 |
1
|
1
|
0 |
0 |
0 |
2
|
|
Institute for Genomic Medicine, Nationwide Children's Hospital
|
0 |
2
|
0 |
0 |
0 |
0 |
2
|
|
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen
|
0 |
1
|
1
|
0 |
0 |
0 |
2
|
|
Neuberg Centre For Genomic Medicine, NCGM
|
0 |
2
|
0 |
0 |
0 |
0 |
2
|
|
ARUP Laboratories, Cytogenetics and Genomic Microarray, ARUP Laboratories
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
|
Bionano Laboratories
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
|
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
|
Clinical Genetics Laboratory, Skane University Hospital Lund
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
|
Daryl Scott Lab, Baylor College of Medicine
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
|
Dasa
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
|
Department of Molecular Biology and Genetics, Acibadem University
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
|
Eurofins Ntd Llc (ga)
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
|
Genetics Laboratory, Great Ormond Street Hospital NHS Foundation Trust, North Thames Genomic Laboratory Hub
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
|
Genome Diagnostics Laboratory, University Medical Center Utrecht
|
0 |
0 |
0 |
1
|
0 |
0 |
1
|
|
Institute of Human Genetics Munich, TUM University Hospital
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
|
Kariminejad - Najmabadi Pathology & Genetics Center
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
|
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)
|
0 |
0 |
0 |
1
|
0 |
0 |
1
|
|
Laboratory of Genetics, Children's Clinical University Hospital Latvia
|
0 |
0 |
0 |
1
|
0 |
0 |
1
|
|
Molecular Genetics, Labor Dr. Heidrich & Kollegen MVZ GmbH
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
|
Muscle and Diseases Team, Institut de Génétique et Biologie Moléculaire et Cellulaire
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
|
New York Genome Center
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
|
Petrovsky National Research Centre of Surgery, The Federal Agency for Scientific Organizations
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
|
Pittsburgh Clinical Genomics Laboratory, University of Pittsburgh Medical Center
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
|
Variantyx, Inc.
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
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health behavior solely on the basis of information contained on
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