Variants studied for Radioulnar synostosis with amegakaryocytic 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
6	5	20	4	0	34

Gene and significance breakdown #

Total genes and gene combinations: 2

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Gene or gene combination	pathogenic	likely pathogenic	uncertain significance	likely benign	total
MECOM	6	5	19	4	33
CAV1	0	0	1	0	1

Submitter and significance breakdown #

Total submitters: 18

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Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	total
Department of Pathology and Laboratory Medicine, Sinai Health System	0	0	3	3	6
ISTH-SSC Genomics in Thrombosis and Hemostasis, KU Leuven, Center for Molecular and Vascular Biology	0	2	2	0	4
OMIM	3	0	0	0	3
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute	0	0	3	0	3
Baylor Genetics	1	0	1	0	2
Revvity Omics, Revvity	0	0	2	0	2
Fulgent Genetics, Fulgent Genetics	0	0	1	1	2
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard	0	1	1	0	2
St. Jude Molecular Pathology, St. Jude Children's Research Hospital	0	1	1	0	2
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas	0	0	2	0	2
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	1	0	0	0	1
Gene Discovery Core-Manton Center, Boston Children's Hospital	1	0	0	0	1
Institute of Human Genetics, University of Leipzig Medical Center	1	0	0	0	1
New York Genome Center	0	0	1	0	1
3billion	0	1	0	0	1
Department of Human Genetics, Hannover Medical School	0	0	1	0	1
Molecular Genetics and NGS Laboratory, Hospital Fundacion Valle Del Lili	0	0	1	0	1
DECIPHERD-UDD, Universidad del Desarrollo	0	0	1	0	1

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