Variants studied for thrombocytopenia 2

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	total
9	16	112	29	95	235

Gene and significance breakdown #

Total genes and gene combinations: 4

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Gene or gene combination	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
ANKRD26	9	16	103	26	88	219
ANKRD26, LOC130003554	0	0	7	2	7	13
MASTL	0	0	2	0	0	2
ACBD5, MASTL	0	0	0	1	0	1

Submitter and significance breakdown #

Total submitters: 28

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Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
Illumina Laboratory Services, Illumina	0	0	46	10	72	128
Genome-Nilou Lab	0	0	0	0	67	67
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	0	0	4	13	28	45
St. Jude Molecular Pathology, St. Jude Children's Research Hospital	0	0	35	0	0	35
ISTH-SSC Genomics in Thrombosis and Hemostasis, KU Leuven, Center for Molecular and Vascular Biology	4	10	1	0	0	15
Fulgent Genetics, Fulgent Genetics	1	1	9	2	0	13
Genetics and Molecular Pathology, SA Pathology	0	2	2	2	1	7
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas	2	0	5	0	0	7
Baylor Genetics	0	0	5	0	0	5
OMIM	3	0	1	0	0	4
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute	2	0	1	0	0	3
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre	0	2	0	0	1	3
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago	0	0	1	1	0	2
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City	0	1	1	0	0	2
Neuberg Centre For Genomic Medicine, NCGM	0	0	2	0	0	2
Genetic Services Laboratory, University of Chicago	0	1	0	0	0	1
Randwick Genomics Laboratory, Prince of Wales Hospital Sydney, Australia, New South Wales Health Pathology	0	1	0	0	0	1
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	1	0	0	0	0	1
Mendelics	0	0	0	0	1	1
Genomic Research Center, Shahid Beheshti University of Medical Sciences	0	0	1	0	0	1
Center of Genomic medicine, Geneva, University Hospital of Geneva	0	1	0	0	0	1
Centre for Mendelian Genomics, University Medical Centre Ljubljana	0	0	1	0	0	1
Johns Hopkins Genomics, Johns Hopkins University	0	0	0	1	0	1
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital	0	0	1	0	0	1
Pittsburgh Clinical Genomics Laboratory, University of Pittsburgh Medical Center	0	0	1	0	0	1
Godley laboratory, The University of Chicago	1	0	0	0	0	1
Ledgerwood and Morison Labs, University of Otago	0	1	0	0	0	1
Dr.Nikuei Genetic Center	0	0	0	1	0	1

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