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 |
171
|
154
|
423
|
85
|
56
|
4
|
781
|
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 |
Invitae
|
105
|
39
|
180
|
61
|
17
|
0 |
402
|
Illumina Clinical Services Laboratory,Illumina
|
6
|
3
|
127
|
15
|
35
|
0 |
186
|
Counsyl
|
9
|
86
|
69
|
2
|
1
|
0 |
167
|
Natera, Inc.
|
12
|
5
|
76
|
11
|
5
|
0 |
109
|
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories
|
32
|
11
|
25
|
0 |
22
|
0 |
90
|
OMIM
|
44
|
0 |
0 |
0 |
0 |
0 |
44
|
Integrated Genetics/Laboratory Corporation of America
|
15
|
3
|
0 |
0 |
0 |
0 |
18
|
Mendelics
|
7
|
5
|
1
|
1
|
2
|
0 |
16
|
Fulgent Genetics,Fulgent Genetics
|
7
|
7
|
1
|
0 |
0 |
0 |
15
|
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
|
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine
|
3
|
2
|
0 |
0 |
0 |
0 |
5
|
Myriad Women's Health, Inc.
|
4
|
1
|
0 |
0 |
0 |
0 |
5
|
Centre for Mendelian Genomics,University Medical Centre Ljubljana
|
2
|
1
|
1
|
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
|
Knight Diagnostic Laboratories, Oregon Health and Sciences University
|
2
|
0 |
1
|
0 |
0 |
0 |
3
|
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City
|
0 |
3
|
0 |
0 |
0 |
0 |
3
|
UNC Molecular Genetics Laboratory,University of North Carolina at Chapel Hill
|
3
|
0 |
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
|
Elsea Laboratory,Baylor College of Medicine
|
1
|
1
|
0 |
0 |
0 |
0 |
2
|
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic
|
1
|
0 |
1
|
0 |
0 |
0 |
2
|
Molecular Diagnostics Laboratory, M Health Fairview: 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
|
Developmental Genetics Unit,King Faisal Specialist Hospital & Research Centre
|
0 |
1
|
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
|
Institute of Human Genetics, University of Leipzig Medical Center
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center
|
0 |
0 |
0 |
1
|
0 |
0 |
1
|
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