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 |
40
|
16
|
634
|
344
|
19
|
2
|
999
|
Condition and significance breakdown #
Submitter and significance breakdown #
Submitter |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
not provided |
total |
Ambry Genetics
|
0 |
0 |
462
|
240
|
12
|
0 |
714
|
Invitae
|
33
|
14
|
383
|
197
|
17
|
0 |
644
|
CeGaT Center for Human Genetics Tuebingen
|
0 |
0 |
3
|
8
|
1
|
0 |
12
|
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden
|
0 |
0 |
10
|
0 |
0 |
0 |
10
|
PreventionGenetics, part of Exact Sciences
|
0 |
0 |
0 |
0 |
9
|
0 |
9
|
Cancer Genomics Group, Japanese Foundation For Cancer Research
|
0 |
1
|
5
|
0 |
0 |
0 |
6
|
OMIM
|
5
|
0 |
0 |
0 |
0 |
0 |
5
|
Department of Pathology and Laboratory Medicine, Sinai Health System
|
0 |
0 |
2
|
1
|
1
|
0 |
4
|
Neurometabolic Diseases Laboratory, Bellvitge Biomedical Research Institute (IDIBELL)
|
3
|
0 |
0 |
0 |
0 |
0 |
3
|
Baylor Genetics
|
0 |
0 |
2
|
0 |
0 |
0 |
2
|
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine
|
0 |
0 |
0 |
0 |
2
|
0 |
2
|
Mayo Clinic Laboratories, Mayo Clinic
|
0 |
0 |
2
|
0 |
0 |
0 |
2
|
Working Group: Pediatric metabolic liver diseases, University Hospital Heidelberg
|
2
|
0 |
0 |
0 |
0 |
0 |
2
|
Dept. of Medical Genetics, The Key Laboratory of Geriatrics, Beijing Institute of Geriatrics, Institute of Geriatric Medicine, Chinese Academy of Medical Sciences, Beijing Hospital/National Center of Gerontology of National Health Commission
|
0 |
2
|
0 |
0 |
0 |
0 |
2
|
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Undiagnosed Diseases Network, NIH
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
GenomeConnect, ClinGen
|
0 |
0 |
0 |
0 |
0 |
1
|
1
|
Genome-Nilou Lab
|
0 |
0 |
0 |
0 |
1
|
0 |
1
|
GenomeConnect - Invitae Patient Insights Network
|
0 |
0 |
0 |
0 |
0 |
1
|
1
|
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