ClinVar Miner

Variants studied for alpha 1-antitrypsin deficiency

Included ClinVar conditions (2):
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 not provided total
49 26 86 89 19 1 233

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 not provided total
SERPINA1 49 26 86 89 19 1 233

Submitter and significance breakdown #

Total submitters: 23
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Illumina Clinical Services Laboratory,Illumina 4 1 73 10 11 0 99
Invitae 17 3 0 46 4 0 70
HerediLab, Inc. 14 1 2 32 0 0 49
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
Fulgent Genetics,Fulgent Genetics 2 1 0 0 0 0 3
Knight Diagnostic Laboratories, Oregon Health and Sciences University 3 0 0 0 0 0 3
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
Child Health and Human Development Program,Research Institute of the McGill University Health Center 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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