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 |
|
304
|
170
|
1508
|
915
|
68
|
16
|
2850
|
Gene and significance breakdown #
Total genes and gene combinations: 6
Submitter and significance breakdown #
| Submitter |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
not provided |
total |
|
Invitae
|
297
|
103
|
1399
|
881
|
52
|
0 |
2732
|
|
Genome-Nilou Lab
|
75
|
8
|
574
|
48
|
12
|
0 |
717
|
|
Natera, Inc.
|
8
|
9
|
250
|
13
|
11
|
0 |
291
|
|
Counsyl
|
1
|
46
|
52
|
15
|
1
|
0 |
115
|
|
Illumina Laboratory Services, Illumina
|
0 |
0 |
61
|
7
|
27
|
0 |
95
|
|
Mendelics
|
3
|
3
|
28
|
11
|
1
|
0 |
46
|
|
Women's Health and Genetics/Laboratory Corporation of America, LabCorp
|
12
|
12
|
0 |
0 |
0 |
0 |
24
|
|
Myriad Genetics, Inc.
|
0 |
19
|
0 |
0 |
0 |
0 |
19
|
|
GeneReviews
|
2
|
0 |
0 |
0 |
0 |
11
|
13
|
|
St. Jude Molecular Pathology, St. Jude Children's Research Hospital
|
2
|
1
|
8
|
2
|
0 |
0 |
13
|
|
OMIM
|
9
|
0 |
0 |
0 |
0 |
0 |
9
|
|
Baylor Genetics
|
2
|
3
|
2
|
0 |
0 |
0 |
6
|
|
GenomeConnect - Invitae Patient Insights Network
|
0 |
0 |
0 |
0 |
0 |
5
|
5
|
|
Department of Pathology and Laboratory Medicine, Sinai Health System
|
0 |
1
|
1
|
2
|
0 |
0 |
4
|
|
Genetic Services Laboratory, University of Chicago
|
3
|
0 |
0 |
0 |
0 |
0 |
3
|
|
Innovations Lab, Hyderabad, Tata Consultancy Services Ltd
|
3
|
0 |
0 |
0 |
0 |
0 |
3
|
|
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine
|
1
|
1
|
0 |
0 |
0 |
0 |
2
|
|
Centre for Mendelian Genomics, University Medical Centre Ljubljana
|
1
|
0 |
1
|
0 |
0 |
0 |
2
|
|
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
|
Miami Human Genetics, University Of Miami Miller School Of Medicine
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
|
Diagnostics Division, CENTRE FOR DNA FINGERPRINTING AND DIAGNOSTICS
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
|
Institute of Human Genetics, University Hospital of Duesseldorf
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
|
IntelligeneCG
|
0 |
0 |
0 |
0 |
1
|
0 |
1
|
|
Institute of Human Genetics, University of Leipzig Medical Center
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
|
Department of Pediatrics, Memorial Sloan Kettering Cancer Center
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
|
GenomeConnect, ClinGen
|
0 |
0 |
0 |
0 |
0 |
1
|
1
|
|
GeneID Lab - Advanced Molecular Diagnostics
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
|
Department Of Genetics, Sultan Qaboos University Hospital, Sultan Qaboos University
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
|
Pathology and Clinical Laboratory Medicine, King Fahad Medical City
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
|
3billion
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
|
DASA
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
|
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
|
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
|
Clinic of Clinical Immunology with Stem Cell Bank, Expert Centre for Rare Diseases - PID, University Hospital "Alexandrovska"
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
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