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 |
93
|
49
|
212
|
357
|
71
|
3
|
715
|
Condition and significance breakdown #
Submitter and significance breakdown #
Submitter |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
not provided |
total |
Invitae
|
57
|
14
|
64
|
278
|
15
|
0 |
428
|
GeneDx
|
9
|
8
|
59
|
63
|
53
|
0 |
192
|
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine
|
12
|
4
|
39
|
20
|
7
|
2
|
84
|
Illumina Laboratory Services, Illumina
|
0 |
1
|
51
|
13
|
13
|
0 |
61
|
PreventionGenetics, part of Exact Sciences
|
2
|
1
|
5
|
8
|
7
|
0 |
23
|
Ambry Genetics
|
0 |
0 |
19
|
0 |
0 |
0 |
19
|
University of Washington Center for Mendelian Genomics, University of Washington
|
0 |
16
|
0 |
0 |
0 |
0 |
16
|
Eurofins Ntd Llc (ga)
|
1
|
1
|
11
|
0 |
1
|
0 |
14
|
Athena Diagnostics Inc
|
2
|
1
|
3
|
1
|
3
|
0 |
10
|
CeGaT Center for Human Genetics Tuebingen
|
0 |
0 |
4
|
3
|
3
|
0 |
10
|
OMIM
|
8
|
0 |
0 |
0 |
0 |
0 |
8
|
Laboratory of Prof. Karen Avraham, Tel Aviv University
|
7
|
0 |
0 |
0 |
0 |
0 |
7
|
3billion
|
2
|
1
|
3
|
0 |
0 |
0 |
6
|
Revvity Omics, Revvity
|
3
|
0 |
2
|
0 |
0 |
0 |
5
|
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories
|
2
|
0 |
1
|
0 |
1
|
0 |
4
|
King Laboratory, University of Washington
|
2
|
2
|
0 |
0 |
0 |
0 |
4
|
Mayo Clinic Laboratories, Mayo Clinic
|
1
|
0 |
3
|
0 |
0 |
0 |
4
|
Center for Statistical Genetics, Columbia University
|
4
|
0 |
0 |
0 |
0 |
0 |
4
|
Baylor Genetics
|
1
|
0 |
2
|
0 |
0 |
0 |
3
|
Women's Health and Genetics/Laboratory Corporation of America, LabCorp
|
1
|
1
|
1
|
0 |
0 |
0 |
3
|
Fulgent Genetics, Fulgent Genetics
|
0 |
0 |
3
|
0 |
0 |
0 |
3
|
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota
|
2
|
1
|
0 |
0 |
0 |
0 |
3
|
Genetic Testing Center for Deafness, Department of Otolaryngology Head & Neck Surgery, Institute of Otolaryngology, Chinese PLA General Hospital
|
3
|
0 |
0 |
0 |
0 |
0 |
3
|
Genomics England Pilot Project, Genomics England
|
1
|
2
|
0 |
0 |
0 |
0 |
3
|
WangQJ Lab, Chinese People's Liberation Army General Hospital
|
1
|
0 |
2
|
0 |
0 |
0 |
3
|
Deafness Molecular Diagnostic Center, Chinese PLA General Hospital
|
1
|
0 |
2
|
0 |
0 |
0 |
3
|
Division of Human Genetics, Children's Hospital of Philadelphia
|
0 |
0 |
2
|
0 |
0 |
0 |
2
|
National Institute on Deafness and Communication Disorders, National Institutes of Health
|
2
|
0 |
0 |
0 |
0 |
0 |
2
|
Baylor-Hopkins Center for Mendelian Genomics, Johns Hopkins University School of Medicine
|
1
|
0 |
1
|
0 |
0 |
0 |
2
|
Hereditary Research Laboratory, Bethlehem University
|
2
|
0 |
0 |
0 |
0 |
0 |
2
|
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+
|
1
|
0 |
1
|
0 |
0 |
0 |
2
|
Centre for Mendelian Genomics, University Medical Centre Ljubljana
|
0 |
0 |
2
|
0 |
0 |
0 |
2
|
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne
|
2
|
0 |
0 |
0 |
0 |
0 |
2
|
Department of Pathology and Laboratory Medicine, Sinai Health System
|
0 |
0 |
2
|
0 |
0 |
0 |
2
|
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center
|
1
|
0 |
1
|
0 |
0 |
0 |
2
|
Genome-Nilou Lab
|
1
|
0 |
0 |
0 |
1
|
0 |
2
|
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine
|
0 |
0 |
2
|
0 |
0 |
0 |
2
|
The Shared Resource Centre "Genome", Research Centre for Medical Genetics
|
1
|
1
|
0 |
0 |
0 |
0 |
2
|
Laboratory of Otorhinolaryngology, Head and Neck Surgery, Seoul National University Hospital
|
0 |
0 |
2
|
0 |
0 |
0 |
2
|
ARUP Laboratories, Cytogenetics and Genomic Microarray, ARUP Laboratories
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Mendelics
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Bionano Laboratories
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Quest Diagnostics Nichols Institute San Juan Capistrano
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Genomic Research Center, Shahid Beheshti University of Medical Sciences
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
ISCA site 1
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
ISCA Site 6
|
0 |
0 |
0 |
1
|
0 |
0 |
1
|
Knight Diagnostic Laboratories, Oregon Health and Sciences University
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Laboratory of NeuroGenetics and Regenerative Medicine, University of Maryland School of Medicine
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Yale Center for Mendelian Genomics, Yale University
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
GenomeConnect, ClinGen
|
0 |
0 |
0 |
0 |
0 |
1
|
1
|
Kariminejad - Najmabadi Pathology & Genetics Center
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Human Genetics Department, Tarbiat Modares University
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Al Jalila Children's Genomics Center, Al Jalila Childrens Speciality Hospital
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
AiLife Diagnostics, AiLife Diagnostics
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Precision Medicine Center, Zhengzhou University
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Department of Otolaryngology – Head & Neck Surgery, Cochlear Implant Center
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Department of Genetics, Dr. ALM PG Institute of Basic Medical Sciences
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Clinical Laboratory Sciences Program (CLSP), King Saud bin Abdulaziz University for Health Sciences (KSAU-HS)
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Payam Genetics Center, General Welfare Department of North Khorasan Province
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
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