Variants studied for Congenital prothrombin 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	pathogenic, low penetrance	risk factor	total
24	9	43	201	17	1	1	280

Gene and significance breakdown #

Total genes and gene combinations: 2

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Gene or gene combination	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	pathogenic, low penetrance	risk factor	total
F2	24	9	42	201	17	1	1	279
F2, ZNF408	0	0	1	0	0	0	0	1

Submitter and significance breakdown #

Total submitters: 12

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Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	pathogenic, low penetrance	risk factor	total
Invitae	11	3	11	199	16	1	0	241
Illumina Laboratory Services, Illumina	0	0	26	2	9	0	0	37
OMIM	11	0	0	0	0	0	0	11
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center	0	5	5	0	0	0	0	10
Baylor Genetics	0	0	2	0	0	0	0	2
ISTH-SSC Genomics in Thrombosis and Hemostasis, KU Leuven, Center for Molecular and Vascular Biology	0	1	1	0	0	0	0	2
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	1	0	0	0	0	0	0	1
Genomic Research Center, Shahid Beheshti University of Medical Sciences	1	0	0	0	0	0	0	1
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues	1	0	0	0	0	0	0	1
Department of Pathology and Laboratory Medicine, Sinai Health System	1	0	0	0	0	0	0	1
Reproductive Health Research and Development, BGI Genomics	0	0	0	0	0	0	1	1
Genome-Nilou Lab	0	0	0	0	1	0	0	1

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