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 |
62
|
22
|
128
|
19
|
31
|
2
|
246
|
Gene and significance breakdown #
Total genes and gene combinations: 14
Submitter and significance breakdown #
Submitter |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
not provided |
total |
Illumina Laboratory Services, Illumina
|
0 |
2
|
105
|
15
|
21
|
0 |
142
|
OMIM
|
35
|
0 |
0 |
0 |
0 |
0 |
35
|
Bicknell laboratory, University of Otago
|
20
|
0 |
1
|
0 |
0 |
0 |
21
|
Baylor Genetics
|
4
|
2
|
6
|
0 |
0 |
0 |
12
|
SIB Swiss Institute of Bioinformatics
|
0 |
6
|
4
|
0 |
0 |
0 |
10
|
Revvity Omics, Revvity
|
2
|
2
|
5
|
0 |
0 |
0 |
9
|
Genome-Nilou Lab
|
0 |
0 |
0 |
0 |
9
|
0 |
9
|
Genetic Services Laboratory, University of Chicago
|
4
|
2
|
1
|
0 |
0 |
0 |
7
|
Fulgent Genetics, Fulgent Genetics
|
0 |
0 |
1
|
5
|
1
|
0 |
7
|
Mendelics
|
0 |
0 |
0 |
0 |
4
|
0 |
4
|
Genomic Research Center, Shahid Beheshti University of Medical Sciences
|
1
|
0 |
2
|
0 |
0 |
0 |
3
|
Institute of Human Genetics, University of Goettingen
|
0 |
1
|
1
|
0 |
0 |
0 |
2
|
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine
|
1
|
1
|
0 |
0 |
0 |
0 |
2
|
Centogene AG - the Rare Disease Company
|
0 |
0 |
2
|
0 |
0 |
0 |
2
|
Service de Génétique Moléculaire, Hôpital Robert Debré
|
0 |
2
|
0 |
0 |
0 |
0 |
2
|
GenomeConnect, ClinGen
|
0 |
0 |
0 |
0 |
0 |
2
|
2
|
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen
|
0 |
0 |
0 |
0 |
2
|
0 |
2
|
Laboratory of Medical Genetics, National & Kapodistrian University of Athens
|
1
|
1
|
0 |
0 |
0 |
0 |
2
|
Genetics Service, Department of Paediatrics, KK Women's and Children's Hospital
|
1
|
1
|
0 |
0 |
0 |
0 |
2
|
Al Jalila Children's Genomics Center, Al Jalila Childrens Speciality Hospital
|
0 |
0 |
1
|
0 |
1
|
0 |
2
|
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Women's Health and Genetics/Laboratory Corporation of America, LabCorp
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Mayo Clinic Laboratories, Mayo Clinic
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Department of Medical Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Institute of Human Genetics, University of Leipzig Medical Center
|
0 |
0 |
0 |
1
|
0 |
0 |
1
|
Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Peking Union Medical College Hospital
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center
|
0 |
0 |
0 |
0 |
1
|
0 |
1
|
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
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