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 |
70
|
93
|
228
|
284
|
48
|
2
|
630
|
Condition and significance breakdown #
Submitter and significance breakdown #
Submitter |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
not provided |
total |
Invitae
|
59
|
19
|
90
|
252
|
16
|
0 |
436
|
Ambry Genetics
|
1
|
0 |
54
|
57
|
4
|
0 |
116
|
Illumina Laboratory Services, Illumina
|
1
|
0 |
57
|
8
|
8
|
0 |
67
|
Eurofins Ntd Llc (ga)
|
7
|
0 |
45
|
3
|
4
|
0 |
59
|
Natera, Inc.
|
11
|
1
|
22
|
12
|
7
|
0 |
53
|
GeneDx
|
4
|
0 |
2
|
10
|
30
|
0 |
46
|
Alexion Pharmaceuticals, Inc
|
0 |
39
|
0 |
0 |
0 |
0 |
39
|
Counsyl
|
4
|
14
|
10
|
1
|
0 |
0 |
29
|
Women's Health and Genetics/Laboratory Corporation of America, LabCorp
|
4
|
6
|
3
|
3
|
0 |
0 |
16
|
Myriad Genetics, Inc.
|
2
|
14
|
0 |
0 |
0 |
0 |
16
|
Mayo Clinic Laboratories, Mayo Clinic
|
1
|
1
|
3
|
2
|
3
|
0 |
10
|
OMIM
|
8
|
0 |
0 |
0 |
0 |
0 |
8
|
Revvity Omics, Revvity Omics
|
7
|
1
|
0 |
0 |
0 |
0 |
8
|
Preventiongenetics, part of Exact Sciences
|
1
|
0 |
2
|
0 |
5
|
0 |
8
|
Fulgent Genetics, Fulgent Genetics
|
4
|
0 |
4
|
0 |
0 |
0 |
8
|
Genome-Nilou Lab
|
0 |
0 |
1
|
0 |
7
|
0 |
8
|
Clinical Genetics, Academic Medical Center
|
1
|
1
|
0 |
1
|
2
|
0 |
5
|
New York Genome Center
|
0 |
0 |
4
|
0 |
0 |
0 |
4
|
Suma Genomics
|
1
|
2
|
1
|
0 |
0 |
0 |
4
|
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute
|
1
|
2
|
0 |
0 |
0 |
0 |
3
|
CeGaT Center for Human Genetics Tuebingen
|
1
|
0 |
0 |
2
|
0 |
0 |
3
|
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center
|
0 |
1
|
0 |
2
|
0 |
0 |
3
|
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine
|
0 |
1
|
2
|
0 |
0 |
0 |
3
|
Mendelics
|
1
|
1
|
0 |
0 |
0 |
0 |
2
|
GeneReviews
|
0 |
0 |
0 |
0 |
0 |
2
|
2
|
Medical Molecular Genetics Department, National Research Center
|
0 |
1
|
1
|
0 |
0 |
0 |
2
|
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen
|
1
|
0 |
0 |
0 |
1
|
0 |
2
|
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center
|
1
|
0 |
0 |
0 |
1
|
0 |
2
|
Baylor Genetics
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Elsea Laboratory, Baylor College of Medicine
|
0 |
0 |
0 |
1
|
0 |
0 |
1
|
FirmaLab, FirmaLab
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Genome Diagnostics Laboratory, University Medical Center Utrecht
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Centogene AG - the Rare Disease Company
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Centre for Inherited Metabolic Diseases, Karolinska University Hospital
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Intergen, Intergen Genetics and Rare Diseases Diagnosis Center
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Clinical Genetics and Genomics, Karolinska University Hospital
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Division of Human Genetics, Children's Hospital of Philadelphia
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Centre for Mendelian Genomics, University Medical Centre Ljubljana
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Institute of Human Genetics, University of Leipzig Medical Center
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Department of Traditional Chinese Medicine, Fujian Provincial Hospital
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Genome Diagnostics Laboratory, Amsterdam University Medical Center
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Laboratory of Inherited Metabolic Diseases, Research centre for medical genetics
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Al Jalila Children's Genomics Center, Al Jalila Childrens Speciality Hospital
|
0 |
0 |
0 |
0 |
1
|
0 |
1
|
Lifecell International Pvt. Ltd
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
3billion
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Clinic of Clinical Immunology with Stem Cell Bank, Expert Centre for Rare Diseases - PID, University Hospital "Alexandrovska"
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Payam Genetics Center, General Welfare Department of North Khorasan Province
|
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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Institutes of Health independently verfies the submitted
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contained on this website, please see a health care
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