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 |
pathogenic, low penetrance |
not provided |
total |
66
|
49
|
91
|
218
|
22
|
1
|
4
|
390
|
Gene and significance breakdown #
Total genes and gene combinations: 1
Gene or gene combination |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
pathogenic, low penetrance |
not provided |
total |
SERPINA1
|
66
|
49
|
91
|
218
|
22
|
1
|
4
|
390
|
Submitter and significance breakdown #
Submitter |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
pathogenic, low penetrance |
not provided |
total |
Labcorp Genetics (formerly Invitae), Labcorp
|
32
|
5
|
8
|
176
|
10
|
1
|
0 |
232
|
Illumina Laboratory Services, Illumina
|
4
|
1
|
73
|
10
|
11
|
0 |
0 |
99
|
HerediLab, Inc.
|
14
|
1
|
2
|
32
|
0 |
0 |
0 |
49
|
Department of Laboratory Medicine and Genetics, Trillium Health Partners Credit Valley Hospital
|
22
|
5
|
5
|
0 |
8
|
0 |
0 |
40
|
Baylor Genetics
|
15
|
20
|
1
|
0 |
0 |
0 |
0 |
36
|
Counsyl
|
3
|
17
|
7
|
0 |
0 |
0 |
0 |
27
|
Fulgent Genetics, Fulgent Genetics
|
3
|
3
|
9
|
0 |
1
|
0 |
0 |
16
|
GeneReviews
|
9
|
0 |
0 |
0 |
1
|
0 |
4
|
14
|
Mendelics
|
4
|
1
|
2
|
0 |
1
|
0 |
0 |
8
|
CSER _CC_NCGL, University of Washington
|
2
|
2
|
2
|
1
|
0 |
0 |
0 |
7
|
Revvity Omics, Revvity
|
2
|
2
|
1
|
0 |
0 |
0 |
0 |
5
|
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine
|
1
|
3
|
0 |
0 |
0 |
0 |
0 |
4
|
Women's Health and Genetics/Laboratory Corporation of America, LabCorp
|
4
|
0 |
0 |
0 |
0 |
0 |
0 |
4
|
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute
|
3
|
1
|
0 |
0 |
0 |
0 |
0 |
4
|
Knight Diagnostic Laboratories, Oregon Health and Sciences University
|
3
|
0 |
0 |
0 |
0 |
0 |
0 |
3
|
UNC Molecular Genetics Laboratory, University of North Carolina at Chapel Hill
|
2
|
1
|
0 |
0 |
0 |
0 |
0 |
3
|
Myriad Genetics, Inc.
|
1
|
1
|
1
|
0 |
0 |
0 |
0 |
3
|
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center
|
2
|
0 |
0 |
0 |
0 |
0 |
0 |
2
|
MGZ Medical Genetics Center
|
1
|
1
|
0 |
0 |
0 |
0 |
0 |
2
|
Division of Human Genetics, Children's Hospital of Philadelphia
|
2
|
0 |
0 |
0 |
0 |
0 |
0 |
2
|
Genetics and Molecular Pathology, SA Pathology
|
1
|
1
|
0 |
0 |
0 |
0 |
0 |
2
|
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen
|
1
|
0 |
0 |
0 |
1
|
0 |
0 |
2
|
Child Health and Human Development Program, Research Institute of the McGill University Health Center
|
2
|
0 |
0 |
0 |
0 |
0 |
0 |
2
|
Institute of Immunology and Genetics Kaiserslautern
|
2
|
0 |
0 |
0 |
0 |
0 |
0 |
2
|
OMIM
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Centogene AG - the Rare Disease Company
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Clinical Genomics Laboratory, Washington University in St. Louis
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Undiagnosed Diseases Network, NIH
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Pôle de Biologie Pathologie Génétique, CHRU LILLE
|
1
|
0 |
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 |
0 |
1
|
GenomeConnect, ClinGen
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
1
|
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Reproductive Health Research and Development, BGI Genomics
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital
|
0 |
0 |
0 |
0 |
1
|
0 |
0 |
1
|
GenomeConnect - Invitae Patient Insights Network
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
1
|
DASA
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Molecular Genetics, Royal Melbourne Hospital
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Instituto Universitario de Enfermedades Tropicales y Salud Pública de Canarias, University of La Laguna
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Servicio Canario de Salud, Hospital Universitario Nuestra Sra. de Candelaria
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Molecular Genetics, Labor Dr. Heidrich & Kollegen MVZ GmbH
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Genomics And Bioinformatics Analysis Resource, Columbia University
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
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diagnostic use or medical decision-making without review by a
genetics professional. Individuals should not change their
health behavior solely on the basis of information contained on
this website. Neither the University of Utah nor the National
Institutes of Health independently verfies the submitted
information. If you have questions about the information
contained on this website, please see a health care
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