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 |
|
46
|
25
|
86
|
67
|
19
|
1
|
210
|
Gene and significance breakdown #
Total genes and gene combinations: 1
| Gene or gene combination |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
not provided |
total |
|
SERPINA1
|
46
|
25
|
86
|
67
|
19
|
1
|
210
|
Submitter and significance breakdown #
| Submitter |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
not provided |
total |
|
Illumina Clinical Services Laboratory,Illumina
|
4
|
1
|
73
|
10
|
11
|
0 |
99
|
|
HerediLab, Inc.
|
14
|
1
|
2
|
32
|
0 |
0 |
49
|
|
Invitae
|
10
|
2
|
0 |
24
|
4
|
0 |
40
|
|
Department of Laboratory Medicine and Genetics,Trillium Health Partners Credit Valley Hospital
|
22
|
5
|
5
|
0 |
8
|
0 |
40
|
|
Counsyl
|
3
|
17
|
8
|
0 |
0 |
0 |
28
|
|
GeneReviews
|
13
|
0 |
0 |
0 |
1
|
0 |
14
|
|
Mendelics
|
2
|
1
|
3
|
0 |
1
|
0 |
7
|
|
CSER _CC_NCGL, University of Washington
|
2
|
2
|
2
|
1
|
0 |
0 |
7
|
|
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen
|
2
|
0 |
0 |
0 |
1
|
0 |
3
|
|
UNC Molecular Genetics Laboratory,University of North Carolina at Chapel Hill
|
2
|
1
|
0 |
0 |
0 |
0 |
3
|
|
Baylor Genetics
|
2
|
0 |
0 |
0 |
0 |
0 |
2
|
|
Division of Human Genetics,Children's Hospital of Philadelphia
|
2
|
0 |
0 |
0 |
0 |
0 |
2
|
|
Knight Diagnostic Laboratories, Oregon Health and Sciences University
|
2
|
0 |
0 |
0 |
0 |
0 |
2
|
|
OMIM
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
|
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
|
Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
|
Pôle de Biologie Pathologie Génétique,CHRU LILLE
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
|
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
|
GenomeConnect, ClinGen
|
0 |
0 |
0 |
0 |
0 |
1
|
1
|
|
Reproductive Health Research and Development,BGI Genomics
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
|
Myriad Women's Health, Inc.
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
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