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 |
22
|
21
|
374
|
172
|
29
|
2
|
609
|
Gene and significance breakdown #
Total genes and gene combinations: 5
Submitter and significance breakdown #
Submitter |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
not provided |
total |
Invitae
|
1
|
1
|
308
|
159
|
18
|
0 |
487
|
Illumina Laboratory Services, Illumina
|
2
|
0 |
36
|
4
|
7
|
0 |
49
|
Natera, Inc.
|
7
|
1
|
21
|
4
|
2
|
0 |
35
|
Counsyl
|
2
|
13
|
11
|
5
|
1
|
0 |
32
|
Fulgent Genetics, Fulgent Genetics
|
5
|
1
|
3
|
0 |
1
|
0 |
10
|
OMIM
|
9
|
0 |
0 |
0 |
0 |
0 |
9
|
Sharon lab, Hadassah-Hebrew University Medical Center
|
4
|
1
|
0 |
0 |
0 |
0 |
5
|
Pars Genome Lab
|
0 |
0 |
0 |
0 |
5
|
0 |
5
|
Women's Health and Genetics/Laboratory Corporation of America, LabCorp
|
4
|
0 |
0 |
0 |
0 |
0 |
4
|
Centre for Genomic Medicine, Manchester, Central Manchester University Hospitals
|
3
|
0 |
0 |
0 |
0 |
0 |
3
|
Baylor Genetics
|
1
|
1
|
0 |
0 |
0 |
0 |
2
|
National Institute on Deafness and Communication Disorders, National Institutes of Health
|
2
|
0 |
0 |
0 |
0 |
0 |
2
|
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare
|
0 |
1
|
1
|
0 |
0 |
0 |
2
|
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+
|
1
|
0 |
1
|
0 |
0 |
0 |
2
|
Ocular Genomics Institute, Massachusetts Eye and Ear
|
2
|
0 |
0 |
0 |
0 |
0 |
2
|
The Cell Therapy Center, The University of Jordan
|
2
|
0 |
0 |
0 |
0 |
0 |
2
|
Myriad Genetics, Inc.
|
1
|
0 |
1
|
0 |
0 |
0 |
2
|
Genome-Nilou Lab
|
0 |
0 |
2
|
0 |
0 |
0 |
2
|
Genetic Services Laboratory, University of Chicago
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Mendelics
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Mayo Clinic Laboratories, Mayo Clinic
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
GenomeConnect, ClinGen
|
0 |
0 |
0 |
0 |
0 |
1
|
1
|
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen
|
0 |
0 |
0 |
0 |
1
|
0 |
1
|
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center
|
0 |
0 |
0 |
0 |
1
|
0 |
1
|
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Reproductive Health Research and Development, BGI Genomics
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Al Jalila Children's Genomics Center, Al Jalila Childrens Speciality Hospital
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
3billion
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
GenomeConnect - Invitae Patient Insights Network
|
0 |
0 |
0 |
0 |
0 |
1
|
1
|
Deafness Molecular Diagnostic Center, Chinese PLA General Hospital
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
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