Variants studied for Alpha-1-antitrypsin deficiency

Minimum submission review status:		Collection method:
Minimum conflict level:
Gene type:		Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		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

Download table as spreadsheet

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

Download table as spreadsheet

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

The information on this website is not intended for direct 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 professional.