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 |
109
|
140
|
236
|
696
|
97
|
1
|
1194
|
Condition and significance breakdown #
Condition |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
not provided |
total |
not provided
|
93
|
26
|
37
|
680
|
87
|
0 |
898
|
Junctional epidermolysis bullosa
|
12
|
4
|
87
|
18
|
29
|
0 |
149
|
Junctional epidermolysis bullosa gravis of Herlitz
|
6
|
89
|
8
|
6
|
11
|
1
|
118
|
Inborn genetic diseases
|
0 |
0 |
112
|
4
|
0 |
0 |
116
|
Epidermolysis bullosa, junctional 3A, intermediate; Epidermolysis bullosa, junctional 3B, severe
|
6
|
24
|
0 |
0 |
0 |
0 |
30
|
LAMC2-related disorder
|
0 |
3
|
0 |
20
|
3
|
0 |
26
|
not specified
|
0 |
0 |
6
|
3
|
12
|
0 |
20
|
Junctional epidermolysis bullosa, non-Herlitz type
|
4
|
0 |
2
|
0 |
10
|
0 |
16
|
Epidermolysis bullosa, junctional 3B, severe
|
10
|
2
|
1
|
0 |
0 |
0 |
13
|
Junctional epidermolysis bullosa gravis of Herlitz; Epidermolysis bullosa, junctional 3A, intermediate; Epidermolysis bullosa, junctional 3B, severe
|
0 |
0 |
8
|
1
|
0 |
0 |
9
|
Epidermolysis bullosa, junctional 3A, intermediate
|
3
|
3
|
0 |
0 |
0 |
0 |
6
|
Abnormality of the skin
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Amelogenesis imperfecta type 1
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Junctional epidermolysis bullosa gravis of Herlitz; Junctional epidermolysis bullosa, non-Herlitz type
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Submitter and significance breakdown #
Submitter |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
not provided |
total |
Labcorp Genetics (formerly Invitae), Labcorp
|
91
|
23
|
17
|
662
|
45
|
0 |
838
|
Illumina Laboratory Services, Illumina
|
0 |
1
|
87
|
18
|
29
|
0 |
135
|
Ambry Genetics
|
0 |
0 |
112
|
4
|
0 |
0 |
116
|
GeneDx
|
1
|
2
|
6
|
2
|
48
|
0 |
59
|
Counsyl
|
0 |
46
|
6
|
3
|
0 |
0 |
55
|
Breakthrough Genomics, Breakthrough Genomics
|
0 |
0 |
3
|
13
|
38
|
0 |
54
|
Myriad Genetics, Inc.
|
1
|
41
|
0 |
0 |
0 |
0 |
42
|
PreventionGenetics, part of Exact Sciences
|
0 |
3
|
0 |
20
|
11
|
0 |
34
|
Fulgent Genetics, Fulgent Genetics
|
6
|
24
|
1
|
0 |
0 |
0 |
31
|
CeGaT Center for Human Genetics Tuebingen
|
1
|
0 |
1
|
21
|
0 |
0 |
23
|
Women's Health and Genetics/Laboratory Corporation of America, LabCorp
|
9
|
3
|
6
|
1
|
1
|
0 |
20
|
Genome-Nilou Lab
|
0 |
0 |
2
|
3
|
11
|
0 |
16
|
Department of Pathology and Laboratory Medicine, Sinai Health System
|
0 |
0 |
9
|
1
|
0 |
0 |
10
|
Eurofins Ntd Llc (ga)
|
0 |
0 |
5
|
1
|
3
|
0 |
9
|
OMIM
|
8
|
0 |
0 |
0 |
0 |
0 |
8
|
Biomedical Innovation Departament, CIEMAT
|
6
|
0 |
0 |
0 |
0 |
0 |
6
|
Revvity Omics, Revvity
|
0 |
2
|
3
|
0 |
0 |
0 |
5
|
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre
|
2
|
1
|
0 |
0 |
0 |
0 |
3
|
Neuberg Centre For Genomic Medicine, NCGM
|
0 |
2
|
1
|
0 |
0 |
0 |
3
|
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute
|
1
|
0 |
1
|
0 |
0 |
0 |
2
|
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India
|
2
|
0 |
0 |
0 |
0 |
0 |
2
|
Gharavi Laboratory, Columbia University
|
0 |
0 |
2
|
0 |
0 |
0 |
2
|
3billion
|
2
|
0 |
0 |
0 |
0 |
0 |
2
|
Department of Genetics, Suzhou Beikang Medical Laboratory
|
0 |
2
|
0 |
0 |
0 |
0 |
2
|
Baylor Genetics
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia
|
0 |
0 |
0 |
1
|
0 |
0 |
1
|
Institute of Human Genetics, University of Ulm
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Mendelics
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
GeneReviews
|
0 |
0 |
0 |
0 |
0 |
1
|
1
|
Cytogenetics and Molecular Genetics Section, Pathology Unit, BARC Hospital, Bhabha Atomic Research Centre
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Kariminejad - Najmabadi Pathology & Genetics Center
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Laboratory of Medical Genetics, National & Kapodistrian University of Athens
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Department of Pediatrics, Division of Medical Genetics, Faculty of Medicine Ramathibodi Hospital, Mahidol University
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital
|
0 |
0 |
0 |
0 |
1
|
0 |
1
|
Molecular Genetics, Royal Melbourne Hospital
|
0 |
0 |
0 |
1
|
0 |
0 |
1
|
Department of Human Genetics, Hannover Medical School
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Reference Center For Rare Oral And Dental Diseases, Crmr O-rares, Hôpitaux Universitaires De Strasbourg
|
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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