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 |
254
|
74
|
182
|
114
|
52
|
5
|
613
|
Condition and significance breakdown #
Submitter and significance breakdown #
Submitter |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
not provided |
total |
Invitae
|
198
|
10
|
65
|
66
|
15
|
0 |
354
|
PreventionGenetics, part of Exact Sciences
|
40
|
42
|
18
|
28
|
2
|
0 |
130
|
GeneDx
|
39
|
10
|
22
|
6
|
11
|
0 |
88
|
Illumina Laboratory Services, Illumina
|
1
|
0 |
45
|
25
|
32
|
0 |
77
|
Ambry Genetics
|
0 |
0 |
29
|
25
|
0 |
0 |
54
|
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories
|
9
|
0 |
2
|
2
|
4
|
0 |
17
|
Athena Diagnostics Inc
|
8
|
3
|
1
|
1
|
2
|
0 |
15
|
OMIM
|
11
|
0 |
0 |
0 |
0 |
0 |
11
|
CeGaT Center for Human Genetics Tuebingen
|
3
|
2
|
0 |
3
|
3
|
0 |
11
|
Genome Diagnostics Laboratory, University Medical Center Utrecht
|
6
|
0 |
0 |
1
|
1
|
0 |
8
|
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center
|
6
|
0 |
0 |
0 |
2
|
0 |
8
|
Centre for Mendelian Genomics, University Medical Centre Ljubljana
|
3
|
1
|
3
|
0 |
0 |
0 |
7
|
Revvity Omics, Revvity
|
1
|
2
|
2
|
0 |
0 |
0 |
5
|
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute
|
4
|
0 |
1
|
0 |
0 |
0 |
5
|
Institute of Human Genetics Greifswald, Research Division, University Medicine Greifswald
|
2
|
0 |
0 |
0 |
0 |
3
|
5
|
Clinical Genetics, Academic Medical Center
|
0 |
0 |
0 |
1
|
3
|
0 |
4
|
New York Genome Center
|
0 |
0 |
4
|
0 |
0 |
0 |
4
|
Baylor Genetics
|
0 |
2
|
1
|
0 |
0 |
0 |
3
|
MGZ Medical Genetics Center
|
1
|
2
|
0 |
0 |
0 |
0 |
3
|
Genetics and Molecular Pathology, SA Pathology
|
3
|
0 |
0 |
0 |
0 |
0 |
3
|
Institute of Human Genetics, University of Leipzig Medical Center
|
0 |
2
|
1
|
0 |
0 |
0 |
3
|
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago
|
3
|
0 |
0 |
0 |
0 |
0 |
3
|
3billion
|
3
|
0 |
0 |
0 |
0 |
0 |
3
|
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center
|
1
|
1
|
0 |
0 |
0 |
0 |
2
|
Eurofins Ntd Llc (ga)
|
2
|
0 |
0 |
0 |
0 |
0 |
2
|
GeneReviews
|
0 |
0 |
0 |
0 |
0 |
2
|
2
|
Institute Of Human Genetics Munich, Klinikum Rechts Der Isar, Tu München
|
2
|
0 |
0 |
0 |
0 |
0 |
2
|
Clinical Genomics Laboratory, Washington University in St. Louis
|
0 |
0 |
2
|
0 |
0 |
0 |
2
|
Seattle Children's Hospital Molecular Genetics Laboratory, Seattle Children's Hospital
|
2
|
0 |
0 |
0 |
0 |
0 |
2
|
Laboratory of Medical Genetics, University of Torino
|
2
|
0 |
0 |
0 |
0 |
0 |
2
|
Hehr Laboratory, Center for Human Genetics Regensburg
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Women's Health and Genetics/Laboratory Corporation of America, LabCorp
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Mendelics
|
0 |
0 |
0 |
0 |
1
|
0 |
1
|
Mayo Clinic Laboratories, Mayo Clinic
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Fulgent Genetics, Fulgent Genetics
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Quest Diagnostics Nichols Institute San Juan Capistrano
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Department Of Translational Genomics (developmental Genetics Section), King Faisal Specialist Hospital & Research Centre
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Myllykangas group, University of Helsinki
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Genomic Medicine Lab, University of California San Francisco
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Institute of Human Genetics, University Hospital Muenster
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
AiLife Diagnostics, AiLife Diagnostics
|
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
|
Molecular Genetics, Royal Melbourne Hospital
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Provincial Medical Genetics Program of British Columbia, University of British Columbia
|
0 |
1
|
0 |
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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Institutes of Health independently verfies the submitted
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