ClinVar Miner

Variants studied for alpha 1-antitrypsin deficiency

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:

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
67 46 91 218 22 1 4 387

Gene and significance breakdown #

Total genes and gene combinations: 1
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign pathogenic, low penetrance not provided total
SERPINA1 67 46 91 218 22 1 4 387

Submitter and significance breakdown #

Total submitters: 43
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign pathogenic, low penetrance not provided total
Invitae 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 14 16 1 0 0 0 0 31
Counsyl 3 17 7 0 0 0 0 27
Fulgent Genetics, Fulgent Genetics 4 3 9 0 1 0 0 17
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 3 0 0 0 0 0 0 3
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 3 0 0 0 0 0 0 3
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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