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 |
10
|
18
|
312
|
172
|
93
|
7
|
524
|
Condition and significance breakdown #
Submitter and significance breakdown #
Submitter |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
not provided |
total |
Invitae
|
6
|
2
|
96
|
130
|
5
|
0 |
239
|
Illumina Laboratory Services, Illumina
|
0 |
0 |
163
|
16
|
81
|
0 |
209
|
GeneDx
|
2
|
0 |
18
|
37
|
20
|
0 |
77
|
Counsyl
|
0 |
5
|
26
|
0 |
0 |
0 |
31
|
CeGaT Center for Human Genetics Tuebingen
|
2
|
0 |
4
|
5
|
1
|
0 |
12
|
Baylor Genetics
|
1
|
6
|
3
|
0 |
0 |
0 |
10
|
Ambry Genetics
|
0 |
0 |
8
|
1
|
0 |
0 |
9
|
PreventionGenetics, part of Exact Sciences
|
0 |
0 |
5
|
3
|
1
|
0 |
9
|
Natera, Inc.
|
1
|
0 |
5
|
1
|
2
|
0 |
9
|
OMIM
|
5
|
0 |
0 |
0 |
0 |
0 |
5
|
Revvity Omics, Revvity
|
0 |
2
|
3
|
0 |
0 |
0 |
5
|
Eurofins Ntd Llc (ga)
|
0 |
0 |
2
|
1
|
2
|
0 |
5
|
GeneReviews
|
0 |
0 |
0 |
0 |
0 |
5
|
5
|
Fulgent Genetics, Fulgent Genetics
|
1
|
0 |
3
|
1
|
0 |
0 |
5
|
Clinical Genetics, Academic Medical Center
|
0 |
0 |
1
|
1
|
0 |
0 |
2
|
Women's Health and Genetics/Laboratory Corporation of America, LabCorp
|
0 |
1
|
0 |
1
|
0 |
0 |
2
|
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center
|
0 |
0 |
1
|
1
|
0 |
0 |
2
|
Genome-Nilou Lab
|
0 |
0 |
0 |
0 |
2
|
0 |
2
|
Suma Genomics
|
1
|
0 |
1
|
0 |
0 |
0 |
2
|
Genetic Services Laboratory, University of Chicago
|
0 |
0 |
0 |
1
|
0 |
0 |
1
|
MGZ Medical Genetics Center
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Mendelics
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Mayo Clinic Laboratories, Mayo Clinic
|
0 |
0 |
0 |
0 |
1
|
0 |
1
|
Institute Of Human Genetics Munich, Klinikum Rechts Der Isar, Tu München
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Genomic Research Center, Shahid Beheshti University of Medical Sciences
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Department of Ophthalmology and Visual Sciences Kyoto University
|
0 |
0 |
0 |
1
|
0 |
0 |
1
|
Centre for Molecular Medicine and Therapeutics, University of British Columbia
|
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
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
GenomeConnect, ClinGen
|
0 |
0 |
0 |
0 |
0 |
1
|
1
|
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Myriad Genetics, Inc.
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Pediatric Department, Xiangya Hospital, Central South University
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
GenomeConnect - Invitae Patient Insights Network
|
0 |
0 |
0 |
0 |
0 |
1
|
1
|
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
DBGen Ocular Genomics
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
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Institutes of Health independently verfies the submitted
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