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 |
uncertain risk allele |
not provided |
total |
47
|
16
|
305
|
169
|
188
|
3
|
2
|
643
|
Condition and significance breakdown #
Submitter and significance breakdown #
Submitter |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
uncertain risk allele |
not provided |
total |
Illumina Laboratory Services, Illumina
|
0 |
0 |
149
|
27
|
60
|
0 |
0 |
235
|
Invitae
|
5
|
3
|
52
|
95
|
56
|
0 |
0 |
211
|
GeneDx
|
0 |
3
|
13
|
0 |
109
|
0 |
0 |
125
|
Genetic Services Laboratory, University of Chicago
|
3
|
4
|
29
|
24
|
13
|
0 |
0 |
73
|
PreventionGenetics, part of Exact Sciences
|
0 |
1
|
9
|
29
|
2
|
0 |
0 |
41
|
Eurofins Ntd Llc (ga)
|
1
|
0 |
29
|
3
|
8
|
0 |
0 |
41
|
Ambry Genetics
|
0 |
0 |
34
|
1
|
2
|
0 |
0 |
37
|
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories
|
0 |
2
|
5
|
3
|
26
|
0 |
0 |
36
|
OMIM
|
32
|
0 |
1
|
0 |
0 |
0 |
0 |
33
|
Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic
|
0 |
0 |
4
|
18
|
1
|
3
|
0 |
26
|
Fulgent Genetics, Fulgent Genetics
|
0 |
1
|
11
|
4
|
1
|
0 |
0 |
17
|
CeGaT Center for Human Genetics Tuebingen
|
0 |
0 |
3
|
10
|
3
|
0 |
0 |
16
|
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)
|
0 |
0 |
0 |
13
|
1
|
0 |
0 |
14
|
Personalized Diabetes Medicine Program, University of Maryland School of Medicine
|
0 |
0 |
5
|
4
|
2
|
0 |
0 |
11
|
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center
|
0 |
0 |
0 |
5
|
6
|
0 |
0 |
11
|
Mendelics
|
0 |
0 |
1
|
7
|
2
|
0 |
0 |
10
|
Medical Research Institute, Tokyo Medical and Dental University
|
5
|
0 |
0 |
0 |
0 |
0 |
0 |
5
|
Genome-Nilou Lab
|
0 |
0 |
0 |
0 |
5
|
0 |
0 |
5
|
Genome Diagnostics Laboratory, University Medical Center Utrecht
|
0 |
0 |
0 |
4
|
0 |
0 |
0 |
4
|
Baylor Genetics
|
0 |
0 |
3
|
0 |
0 |
0 |
0 |
3
|
Revvity Omics, Revvity
|
0 |
0 |
3
|
0 |
0 |
0 |
0 |
3
|
Women's Health and Genetics/Laboratory Corporation of America, LabCorp
|
0 |
0 |
2
|
1
|
0 |
0 |
0 |
3
|
Department of Pathology and Laboratory Medicine, Sinai Health System
|
0 |
0 |
3
|
0 |
0 |
0 |
0 |
3
|
Gharavi Laboratory, Columbia University
|
0 |
0 |
3
|
0 |
0 |
0 |
0 |
3
|
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine
|
0 |
0 |
0 |
0 |
2
|
0 |
0 |
2
|
GeneReviews
|
0 |
0 |
0 |
0 |
0 |
0 |
2
|
2
|
Genetics and Molecular Pathology, SA Pathology
|
0 |
0 |
1
|
1
|
0 |
0 |
0 |
2
|
Laboratory of Molecular Biology and Genetics, St Antoine Hospital - APHP
|
2
|
0 |
0 |
0 |
0 |
0 |
0 |
2
|
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen
|
0 |
0 |
0 |
0 |
2
|
0 |
0 |
2
|
Institute of Human Genetics, University Hospital Muenster
|
0 |
0 |
2
|
0 |
0 |
0 |
0 |
2
|
Pediatrics, Sichuan Provincial Hospital For Women And Children
|
0 |
2
|
0 |
0 |
0 |
0 |
0 |
2
|
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia
|
0 |
0 |
0 |
0 |
1
|
0 |
0 |
1
|
MGZ Medical Genetics Center
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics
|
0 |
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Clinical Genetics, Erasmus University Medical Center
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Centre for Mendelian Genomics, University Medical Centre Ljubljana
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Institute of Human Genetics, University of Leipzig Medical Center
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
1
|
The Translational Medicine Center of Children Development and Disease, Fudan University
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard
|
0 |
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Department for BioMedical Research, Inselspital, Bern University Hospital, University of Bern
|
0 |
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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