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 |
25
|
16
|
442
|
364
|
111
|
11
|
877
|
Condition and significance breakdown #
Submitter and significance breakdown #
Submitter |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
not provided |
total |
Invitae
|
18
|
12
|
234
|
281
|
26
|
0 |
571
|
Illumina Laboratory Services, Illumina
|
0 |
0 |
138
|
21
|
36
|
0 |
195
|
GeneDx
|
4
|
0 |
32
|
71
|
66
|
0 |
173
|
Genome Diagnostics Laboratory, The Hospital for Sick Children
|
0 |
1
|
59
|
13
|
10
|
0 |
83
|
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories
|
0 |
0 |
25
|
31
|
11
|
0 |
67
|
CeGaT Center for Human Genetics Tuebingen
|
0 |
0 |
9
|
20
|
7
|
0 |
36
|
Revvity Omics, Revvity
|
0 |
0 |
27
|
0 |
0 |
0 |
27
|
Ambry Genetics
|
0 |
0 |
24
|
0 |
0 |
0 |
24
|
PreventionGenetics, part of Exact Sciences
|
0 |
0 |
3
|
15
|
4
|
0 |
22
|
Genome Diagnostics Laboratory, University Medical Center Utrecht
|
0 |
0 |
1
|
8
|
2
|
0 |
11
|
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center
|
0 |
0 |
1
|
8
|
1
|
0 |
10
|
Mayo Clinic Laboratories, Mayo Clinic
|
0 |
0 |
8
|
0 |
0 |
0 |
8
|
Fulgent Genetics, Fulgent Genetics
|
0 |
1
|
6
|
0 |
0 |
0 |
7
|
Unité médicale des maladies autoinflammatoires, CHRU Montpellier
|
0 |
0 |
0 |
0 |
0 |
7
|
7
|
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago
|
0 |
0 |
7
|
0 |
0 |
0 |
7
|
Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan
|
0 |
0 |
0 |
0 |
7
|
0 |
7
|
GeneReviews
|
0 |
0 |
0 |
0 |
0 |
6
|
6
|
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)
|
0 |
0 |
0 |
5
|
0 |
0 |
5
|
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine
|
0 |
0 |
1
|
1
|
1
|
0 |
3
|
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen
|
0 |
0 |
0 |
2
|
1
|
0 |
3
|
OMIM
|
2
|
0 |
0 |
0 |
0 |
0 |
2
|
Blueprint Genetics
|
0 |
0 |
2
|
0 |
0 |
0 |
2
|
GenomeConnect, ClinGen
|
0 |
0 |
0 |
0 |
0 |
2
|
2
|
Beijing Key Laboratry for Genetics of Birth Defects, Beijing Children's Hospital
|
2
|
0 |
0 |
0 |
0 |
0 |
2
|
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Women's Health and Genetics/Laboratory Corporation of America, LabCorp
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Eurofins Ntd Llc (ga)
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Genomic Research Center, Shahid Beheshti University of Medical Sciences
|
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
|
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+
|
0 |
0 |
0 |
0 |
1
|
0 |
1
|
Cytogenetics and Molecular Genetics Section, Pathology Unit, BARC Hospital, Bhabha Atomic Research Centre
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Genetics and Molecular Pathology, SA Pathology
|
0 |
0 |
0 |
1
|
0 |
0 |
1
|
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard
|
0 |
0 |
0 |
0 |
1
|
0 |
1
|
Al Jalila Children's Genomics Center, Al Jalila Childrens Speciality Hospital
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Genomics Facility, Ludwig-Maximilians-Universität München
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
AiLife Diagnostics, AiLife Diagnostics
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Genome-Nilou Lab
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Department of Human Genetics, Hannover Medical School
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
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