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 |
112
|
63
|
200
|
864
|
188
|
2
|
1344
|
Condition and significance breakdown #
Submitter and significance breakdown #
Submitter |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
not provided |
total |
Invitae
|
67
|
34
|
32
|
825
|
73
|
0 |
1031
|
Illumina Laboratory Services, Illumina
|
1
|
1
|
104
|
25
|
35
|
0 |
166
|
GeneDx
|
16
|
5
|
6
|
6
|
128
|
0 |
161
|
Ambry Genetics
|
1
|
0 |
64
|
2
|
0 |
0 |
67
|
PreventionGenetics, part of Exact Sciences
|
2
|
2
|
1
|
23
|
23
|
0 |
51
|
OMIM
|
17
|
0 |
0 |
0 |
0 |
0 |
17
|
Leeds Amelogenesis Imperfecta Research Group, University of Leeds
|
9
|
6
|
2
|
0 |
0 |
0 |
17
|
Genome-Nilou Lab
|
0 |
0 |
0 |
0 |
14
|
0 |
14
|
CeGaT Center for Human Genetics Tuebingen
|
0 |
0 |
0 |
7
|
1
|
0 |
8
|
Biomedical Innovation Departament, CIEMAT
|
8
|
0 |
0 |
0 |
0 |
0 |
8
|
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine
|
0 |
6
|
0 |
0 |
0 |
0 |
6
|
Revvity Omics, Revvity
|
2
|
1
|
2
|
0 |
0 |
0 |
5
|
Women's Health and Genetics/Laboratory Corporation of America, LabCorp
|
0 |
1
|
3
|
1
|
0 |
0 |
5
|
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota
|
3
|
2
|
0 |
0 |
0 |
0 |
5
|
Centre for Mendelian Genomics, University Medical Centre Ljubljana
|
2
|
0 |
2
|
0 |
0 |
0 |
4
|
Fulgent Genetics, Fulgent Genetics
|
0 |
0 |
1
|
2
|
0 |
0 |
3
|
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen
|
1
|
0 |
0 |
2
|
0 |
0 |
3
|
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center
|
0 |
0 |
0 |
3
|
0 |
0 |
3
|
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center
|
2
|
0 |
0 |
0 |
0 |
0 |
2
|
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine
|
0 |
2
|
0 |
0 |
0 |
0 |
2
|
Mendelics
|
1
|
1
|
0 |
0 |
0 |
0 |
2
|
Eurofins Ntd Llc (ga)
|
1
|
1
|
0 |
0 |
0 |
0 |
2
|
Department of Pathology and Laboratory Medicine, Sinai Health System
|
0 |
0 |
2
|
0 |
0 |
0 |
2
|
Dental Genetics Laboratory, Seoul National University School of Dentistry
|
2
|
0 |
0 |
0 |
0 |
0 |
2
|
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas
|
0 |
2
|
0 |
0 |
0 |
0 |
2
|
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein
|
0 |
2
|
0 |
0 |
0 |
0 |
2
|
Baylor Genetics
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
MGZ Medical Genetics Center
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Centogene AG - the Rare Disease Company
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Genomic Research Center, Shahid Beheshti University of Medical Sciences
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Genetics and Molecular Pathology, SA Pathology
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
GenomeConnect, ClinGen
|
0 |
0 |
0 |
0 |
0 |
1
|
1
|
Center for Personalized Medicine, Children's Hospital Los Angeles
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Kariminejad - Najmabadi Pathology & Genetics Center
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)
|
0 |
0 |
0 |
1
|
0 |
0 |
1
|
Genome Diagnostics Laboratory, Amsterdam University Medical Center
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Institute of Human Genetics, Polish Academy of Sciences
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
GenomeConnect - Invitae Patient Insights Network
|
0 |
0 |
0 |
0 |
0 |
1
|
1
|
Rare Diseases Genetics and Genomics, Islamia College Peshawar
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Center for Reproductive Medicine, Changhai Hospital, Naval Medical University
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Department Of Pediatric Dentistry, Peking University School And Hospital Of Stomatology
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
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