Variants studied for platelet-type bleeding disorder 15

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
11	22	27	5	0	60

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	total
ACTN1	11	22	27	5	60

Submitter and significance breakdown #

Total submitters: 17

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Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	total
ISTH-SSC Genomics in Thrombosis and Hemostasis, KU Leuven, Center for Molecular and Vascular Biology	6	5	15	3	29
Hematology laboratory, Robert Debré Hospital	0	11	0	0	11
OMIM	6	0	0	0	6
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute	0	1	2	0	3
Fulgent Genetics, Fulgent Genetics	0	0	3	0	3
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre	0	2	1	0	3
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas	0	0	3	0	3
Baylor Genetics	0	1	1	0	2
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology	1	1	0	0	2
Revvity Omics, Revvity	0	0	1	0	1
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	1	0	0	0	1
Juno Genomics, Hangzhou Juno Genomics, Inc	0	0	1	0	1
Johns Hopkins Genomics, Johns Hopkins University	0	0	0	1	1
3billion, Medical Genetics	0	1	0	0	1
Neuberg Centre For Genomic Medicine, NCGM	0	0	1	0	1
Unidade de Genética Molecular, Centro Hospitalar Universitário do Porto	0	1	0	0	1
Dr.Nikuei Genetic Center	0	0	0	1	1

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