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 |
total |
45
|
23
|
455
|
446
|
71
|
977
|
Condition and significance breakdown #
Submitter and significance breakdown #
Submitter |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
total |
Invitae
|
40
|
14
|
334
|
424
|
16
|
828
|
Illumina Laboratory Services, Illumina
|
0 |
0 |
88
|
10
|
12
|
110
|
GeneDx
|
4
|
4
|
11
|
9
|
49
|
77
|
Eurofins Ntd Llc (ga)
|
1
|
0 |
69
|
1
|
0 |
71
|
Ambry Genetics
|
0 |
0 |
29
|
0 |
0 |
29
|
Mayo Clinic Laboratories, Mayo Clinic
|
0 |
0 |
3
|
2
|
5
|
10
|
CeGaT Center for Human Genetics Tuebingen
|
0 |
0 |
3
|
6
|
0 |
9
|
Baylor Genetics
|
1
|
1
|
5
|
0 |
0 |
7
|
Women's Health and Genetics/Laboratory Corporation of America, LabCorp
|
0 |
1
|
5
|
0 |
1
|
7
|
Revvity Omics, Revvity Omics
|
0 |
1
|
5
|
0 |
0 |
6
|
Preventiongenetics, part of Exact Sciences
|
0 |
0 |
2
|
3
|
1
|
6
|
Fulgent Genetics, Fulgent Genetics
|
0 |
1
|
2
|
0 |
1
|
4
|
OMIM
|
3
|
0 |
0 |
0 |
0 |
3
|
Elsea Laboratory, Baylor College of Medicine
|
0 |
0 |
3
|
0 |
0 |
3
|
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics
|
0 |
0 |
2
|
0 |
1
|
3
|
Department of Pediatrics, Samsung Medical Center, Samsung Medical Center
|
0 |
0 |
3
|
0 |
0 |
3
|
Mendelics
|
0 |
0 |
0 |
0 |
2
|
2
|
Broad Institute Rare Disease Group, Broad Institute
|
0 |
1
|
1
|
0 |
0 |
2
|
Genome-Nilou Lab
|
0 |
0 |
0 |
0 |
2
|
2
|
3billion
|
0 |
1
|
1
|
0 |
0 |
2
|
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute
|
1
|
0 |
0 |
0 |
0 |
1
|
Department of Medical Genetics, Oslo University Hospital
|
1
|
0 |
0 |
0 |
0 |
1
|
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+
|
0 |
0 |
0 |
0 |
1
|
1
|
Centre for Mendelian Genomics, University Medical Centre Ljubljana
|
0 |
0 |
1
|
0 |
0 |
1
|
Institute of Human Genetics, University of Leipzig Medical Center
|
0 |
0 |
1
|
0 |
0 |
1
|
Kariminejad - Najmabadi Pathology & Genetics Center
|
0 |
1
|
0 |
0 |
0 |
1
|
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center
|
0 |
0 |
0 |
1
|
0 |
1
|
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City
|
1
|
0 |
0 |
0 |
0 |
1
|
Gharavi Laboratory, Columbia University
|
0 |
0 |
1
|
0 |
0 |
1
|
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center
|
1
|
0 |
0 |
0 |
0 |
1
|
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