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	55	51	9	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	55	51	9	1	160

Submitter and significance breakdown #

Total submitters: 16

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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	0	2	30	0	0	46
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	5	1	0	6	1	0	13
CSER_CC_NCGL; University of Washington Medical Center	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 Miraca Genetics Laboratories,	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
GenomeConnect, ClinGen	0	0	0	0	0	1	1

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