Variants studied for Congenital amegakaryocytic thrombocytopenia

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
21	52	79	37	15	188

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	total
MPL	21	52	79	37	15	188

Submitter and significance breakdown #

Total submitters: 19

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Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
Illumina Laboratory Services, Illumina	0	0	44	24	9	77
Natera, Inc.	7	3	22	13	7	52
Myriad Genetics, Inc.	1	31	0	0	0	32
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	13	5	0	0	0	18
Counsyl	1	0	6	5	2	14
Dept. of Cytogenetics, ICMR- National Institute of Immunohaematology	4	4	1	0	0	9
Baylor Genetics	2	1	1	0	0	4
Genetic Services Laboratory, University of Chicago	3	1	0	0	0	4
Genome-Nilou Lab	2	0	2	0	0	4
ISTH-SSC Genomics in Thrombosis and Hemostasis, KU Leuven, Center for Molecular and Vascular Biology	0	1	3	0	0	4
NIHR Bioresource Rare Diseases, University of Cambridge	0	3	0	0	0	3
3billion	0	2	1	0	0	3
Suma Genomics	1	0	1	0	0	2
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	0	1	0	0	0	1
Genetics and Molecular Pathology, SA Pathology	0	0	1	0	0	1
UNC Molecular Genetics Laboratory, University of North Carolina at Chapel Hill	0	1	0	0	0	1
Reproductive Health Research and Development, BGI Genomics	1	0	0	0	0	1
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas	0	0	1	0	0	1
Neuberg Centre For Genomic Medicine, NCGM	1	0	0	0	0	1

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