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 |
|
130
|
135
|
244
|
33
|
33
|
4
|
495
|
Gene and significance breakdown #
Total genes and gene combinations: 7
Submitter and significance breakdown #
| Submitter |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
not provided |
total |
|
Counsyl
|
12
|
88
|
69
|
2
|
1
|
0 |
172
|
|
Invitae
|
56
|
21
|
91
|
1
|
3
|
0 |
172
|
|
Illumina Clinical Services Laboratory,Illumina
|
6
|
3
|
66
|
25
|
10
|
0 |
110
|
|
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories
|
32
|
11
|
25
|
0 |
22
|
0 |
90
|
|
OMIM
|
44
|
0 |
0 |
0 |
0 |
0 |
44
|
|
Mendelics
|
7
|
5
|
1
|
1
|
2
|
0 |
16
|
|
Fulgent Genetics,Fulgent Genetics
|
7
|
7
|
1
|
0 |
0 |
0 |
15
|
|
Integrated Genetics/Laboratory Corporation of America
|
9
|
4
|
0 |
0 |
0 |
0 |
13
|
|
Research Unit for Molecular Medicine, Department for Clinical Medicine,Aarhus University
|
8
|
0 |
0 |
1
|
0 |
0 |
9
|
|
Genomic Research Center, Shahid Beheshti University of Medical Sciences
|
0 |
3
|
3
|
0 |
0 |
0 |
6
|
|
SingHealth Duke-NUS Institute of Precision Medicine
|
0 |
2
|
3
|
1
|
0 |
0 |
6
|
|
Natera Inc
|
4
|
0 |
0 |
1
|
1
|
0 |
6
|
|
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine
|
3
|
1
|
0 |
0 |
0 |
0 |
4
|
|
GenomeConnect, ClinGen
|
0 |
0 |
0 |
0 |
0 |
4
|
4
|
|
GeneReviews
|
1
|
2
|
0 |
0 |
0 |
0 |
3
|
|
Institute of Human Genetics,Klinikum rechts der Isar
|
2
|
1
|
0 |
0 |
0 |
0 |
3
|
|
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City
|
0 |
3
|
0 |
0 |
0 |
0 |
3
|
|
Reproductive Health Research and Development,BGI Genomics
|
3
|
0 |
0 |
0 |
0 |
0 |
3
|
|
Baylor Genetics
|
2
|
0 |
0 |
0 |
0 |
0 |
2
|
|
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic
|
1
|
0 |
1
|
0 |
0 |
0 |
2
|
|
Knight Diagnostic Laboratories,Oregon Health and Sciences University
|
2
|
0 |
0 |
0 |
0 |
0 |
2
|
|
Molecular Diagnostics Laboratory, M Health: University of Minnesota
|
0 |
2
|
0 |
0 |
0 |
0 |
2
|
|
Department of Genetics,Sultan Qaboos University Hospital, Oman
|
0 |
0 |
2
|
0 |
0 |
0 |
2
|
|
Genome Diagnostics Laboratory,University Medical Center Utrecht
|
0 |
0 |
0 |
0 |
1
|
0 |
1
|
|
Courtagen Diagnostics Laboratory,Courtagen Life Sciences
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
|
UCLA Clinical Genomics Center, UCLA
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
|
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
|
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center
|
0 |
0 |
0 |
1
|
0 |
0 |
1
|
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