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 |
71
|
33
|
303
|
918
|
94
|
3
|
1331
|
Condition and significance breakdown #
Submitter and significance breakdown #
Submitter |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
not provided |
total |
Invitae
|
63
|
14
|
165
|
831
|
37
|
0 |
1110
|
Natera, Inc.
|
2
|
1
|
98
|
58
|
26
|
0 |
185
|
GeneDx
|
4
|
1
|
21
|
70
|
61
|
0 |
157
|
Genome Diagnostics Laboratory, The Hospital for Sick Children
|
0 |
0 |
51
|
12
|
8
|
0 |
71
|
Ambry Genetics
|
1
|
0 |
58
|
6
|
0 |
0 |
65
|
CeGaT Center for Human Genetics Tuebingen
|
0 |
1
|
9
|
30
|
0 |
0 |
40
|
PreventionGenetics, part of Exact Sciences
|
0 |
0 |
0 |
24
|
1
|
0 |
25
|
Institute of Human Genetics, University of Leipzig Medical Center
|
2
|
7
|
7
|
0 |
1
|
0 |
17
|
Mayo Clinic Laboratories, Mayo Clinic
|
0 |
0 |
11
|
0 |
0 |
0 |
11
|
Genome-Nilou Lab
|
0 |
0 |
0 |
0 |
11
|
0 |
11
|
Women's Health and Genetics/Laboratory Corporation of America, LabCorp
|
1
|
2
|
4
|
3
|
0 |
0 |
10
|
Fulgent Genetics, Fulgent Genetics
|
1
|
0 |
8
|
1
|
0 |
0 |
10
|
Baylor Genetics
|
1
|
0 |
8
|
0 |
0 |
0 |
9
|
OMIM
|
7
|
0 |
0 |
0 |
0 |
0 |
7
|
Revvity Omics, Revvity
|
1
|
3
|
2
|
0 |
0 |
0 |
6
|
Counsyl
|
0 |
1
|
2
|
0 |
1
|
0 |
4
|
Clinical Genetics, Academic Medical Center
|
0 |
0 |
0 |
2
|
1
|
0 |
3
|
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center
|
0 |
0 |
0 |
2
|
1
|
0 |
3
|
Genomic Research Center, Shahid Beheshti University of Medical Sciences
|
1
|
0 |
1
|
0 |
0 |
0 |
2
|
Tgen's Center For Rare Childhood Disorders, Translational Genomics Research Institute (TGEN)
|
1
|
1
|
0 |
0 |
0 |
0 |
2
|
GenomeConnect, ClinGen
|
0 |
0 |
0 |
0 |
0 |
2
|
2
|
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)
|
0 |
0 |
0 |
2
|
0 |
0 |
2
|
Genomics England Pilot Project, Genomics England
|
0 |
2
|
0 |
0 |
0 |
0 |
2
|
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein
|
0 |
0 |
1
|
1
|
0 |
0 |
2
|
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Institute for Genomic Medicine (IGM) Clinical Laboratory, Nationwide Children's Hospital
|
0 |
0 |
0 |
0 |
1
|
0 |
1
|
Bionano Laboratories
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Eurofins Ntd Llc (ga)
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics
|
0 |
0 |
0 |
1
|
0 |
0 |
1
|
SIB Swiss Institute of Bioinformatics
|
0 |
0 |
0 |
0 |
1
|
0 |
1
|
Clinical Genomics Unit, Sheba Medical Center
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Department of Pediatrics, Samsung Medical Center, Samsung Medical Center
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn
|
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
|
DASA
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
GenomeConnect - Brain Gene Registry
|
0 |
0 |
0 |
0 |
0 |
1
|
1
|
DECIPHERD-UDD, Universidad del Desarrollo
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
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