Variants studied for thrombophilia due to activated protein C resistance

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
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	established risk allele	pathogenic, low penetrance	not provided	total
5	2	134	54	6	1	1	3	200

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	established risk allele	pathogenic, low penetrance	not provided	total
F5	5	2	134	54	6	1	1	3	200

Submitter and significance breakdown #

Total submitters: 17

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Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	established risk allele	pathogenic, low penetrance	not provided	total
Illumina Laboratory Services, Illumina	0	0	126	50	3	0	0	0	179
ISTH-SSC Genomics in Thrombosis and Hemostasis, KU Leuven, Center for Molecular and Vascular Biology	1	1	5	0	0	0	0	0	7
Fulgent Genetics, Fulgent Genetics	0	0	1	4	1	0	0	0	6
OMIM	4	0	0	0	0	0	0	0	4
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center	0	0	2	0	2	0	0	0	4
GeneReviews	0	0	0	0	0	0	0	3	3
Baylor Genetics	2	0	0	0	0	0	0	0	2
Neuberg Centre For Genomic Medicine, NCGM	0	0	2	0	0	0	0	0	2
Mendelics	1	0	0	0	0	0	0	0	1
Knight Diagnostic Laboratories, Oregon Health and Sciences University	1	0	0	0	0	0	0	0	1
Undiagnosed Diseases Network, NIH	1	0	0	0	0	0	0	0	1
Department of Pathology and Laboratory Medicine, Sinai Health System	0	0	0	0	0	1	0	0	1
Variantyx, Inc.	0	0	0	0	0	0	1	0	1
UNC Molecular Genetics Laboratory, University of North Carolina at Chapel Hill	1	0	0	0	0	0	0	0	1
Pediatrics Genetics, Post Graduate Institute of Medical Education and Research	0	1	0	0	0	0	0	0	1
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein	1	0	0	0	0	0	0	0	1
Breakthrough Genomics, Breakthrough Genomics	1	0	0	0	0	0	0	0	1

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