Variants studied for Macrothrombocytopenia, isolated, 1, autosomal dominant

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
6	7	34	1	1	44

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
TUBB1	6	7	34	1	1	44

Submitter and significance breakdown #

Total submitters: 18

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Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
ISTH-SSC Genomics in Thrombosis and Hemostasis, KU Leuven, Center for Molecular and Vascular Biology	3	2	24	0	1	30
OMIM	4	0	0	0	0	4
Revvity Omics, Revvity	0	2	2	0	0	4
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	1	2	0	0	0	3
Baylor Genetics	0	1	1	0	0	2
MGZ Medical Genetics Center	0	1	1	0	0	2
Mendelics	1	0	1	0	0	2
Fulgent Genetics, Fulgent Genetics	0	0	1	1	0	2
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center	0	0	1	0	0	1
Illumina Laboratory Services, Illumina	0	0	1	0	0	1
Genetics and Molecular Pathology, SA Pathology	0	0	1	0	0	1
Institute of Human Genetics, University of Leipzig Medical Center	0	0	1	0	0	1
Juno Genomics, Hangzhou Juno Genomics, Inc	0	1	0	0	0	1
Johns Hopkins Genomics, Johns Hopkins University	0	0	1	0	0	1
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas	0	1	0	0	0	1
Platelet Disorders/Laboratory of Genetics and Genomics, Cincinnati Children's Hospital Medical Center, U Cincinnati College of Medicine	1	0	0	0	0	1
Unidade de Genética Molecular, Centro Hospitalar Universitário do Porto	1	0	0	0	0	1
Institute of Immunology and Genetics Kaiserslautern	0	0	1	0	0	1

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