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
44 25 56 47 10 1 160

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 44 25 56 47 10 1 160

Submitter and significance breakdown #

Total submitters: 19
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Illumina Clinical Services Laboratory,Illumina 4 1 41 14 1 0 61
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 4 17 8 0 0 0 29
GeneReviews 13 0 0 0 1 0 14
Invitae 7 2 0 0 1 0 10
Mendelics 2 1 3 0 1 0 7
CSER _CC_NCGL, University of Washington 2 2 2 1 0 0 7
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine 1 1 0 0 0 1 3
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen 2 0 0 0 1 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
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

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