Variants studied for Factor V deficiency

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	risk factor	total
15	17	163	19	47	1	254

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	risk factor	total
F5	15	17	163	19	47	1	254

Submitter and significance breakdown #

Total submitters: 16

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Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	risk factor	total
Illumina Laboratory Services, Illumina	1	1	140	15	45	0	202
NIHR Bioresource Rare Diseases, University of Cambridge	1	11	5	0	0	0	17
ISTH-SSC Genomics in Thrombosis and Hemostasis, KU Leuven, Center for Molecular and Vascular Biology	2	4	7	0	0	0	13
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center	1	1	8	1	0	0	11
OMIM	9	0	0	0	0	0	9
Labcorp Genetics (formerly Invitae), Labcorp	0	0	2	2	1	0	5
3billion	1	0	2	0	0	0	3
Baylor Genetics	1	0	1	0	0	0	2
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	0	1	0	0	0	1	2
Mendelics	0	0	1	1	0	0	2
Natera, Inc.	0	0	0	0	1	0	1
Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine	1	0	0	0	0	0	1
Knight Diagnostic Laboratories, Oregon Health and Sciences University	0	1	0	0	0	0	1
Genetics and Molecular Pathology, SA Pathology	0	1	0	0	0	0	1
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas	0	0	1	0	0	0	1
Medical Genetics Laboratory, West China Hospital, Sichuan University	1	0	0	0	0	0	1

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