ClinVar Miner

Variants studied for Alpha-1-antitrypsin deficiency

Coded as:
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
46 25 86 67 19 1 210

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 46 25 86 67 19 1 210

Submitter and significance breakdown #

Total submitters: 21
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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
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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