Variants in gene HABP2 - ClinVar Miner

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
0	0	116	47	58	1	205

Condition and significance breakdown #

Total conditions: 9

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Condition	uncertain significance	likely benign	benign	risk factor	total
not provided	6	34	54	0	88
Factor VII Marburg I Variant Thrombophilia	48	20	4	0	72
not specified	66	3	0	0	69
HABP2-related disorder	2	6	5	0	13
Thyroid cancer, nonmedullary, 5	5	0	0	0	5
Thrombophilia due to thrombin defect; Thyroid cancer, nonmedullary, 5	0	2	0	0	2
FACTOR VII-ACTIVATING PROTEASE MARBURG I POLYMORPHISM	0	0	1	0	1
THYROID CANCER, NONMEDULLARY, 5, SUSCEPTIBILITY TO	0	0	0	1	1
Venous thromboembolism, susceptibility to	0	0	0	1	1

Submitter and significance breakdown #

Total submitters: 14

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Submitter	uncertain significance	likely benign	benign	risk factor	total
GeneDx	0	27	48	0	75
Illumina Laboratory Services, Illumina	48	20	4	0	72
Ambry Genetics	66	2	0	0	68
Breakthrough Genomics, Breakthrough Genomics	4	15	23	0	42
PreventionGenetics, part of Exact Sciences	1	6	5	0	12
Labcorp Genetics (formerly Invitae), Labcorp	0	1	6	0	7
CeGaT Center for Human Genetics Tuebingen	1	4	0	0	5
Department of Pathology and Laboratory Medicine, Sinai Health System	4	0	0	0	4
Fulgent Genetics, Fulgent Genetics	0	2	0	0	2
OMIM	0	0	1	1	1
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	0	1	0	0	1
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre	1	0	0	0	1
Institute of Human Genetics, University Hospital of Duesseldorf	1	0	0	0	1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein	1	0	0	0	1

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