ClinVar Miner

Variants studied for radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
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 4 20 1 0 30

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 total
MECOM 5 4 16 1 25
HOXA11, LOC107126281 0 0 3 0 3
CAV1 0 0 1 0 1
HOXA11 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 17
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Submitter pathogenic likely pathogenic uncertain significance likely benign total
OMIM 4 0 0 0 4
ISTH-SSC Genomics in Thrombosis and Hemostasis, KU Leuven, Center for Molecular and Vascular Biology 0 2 2 0 4
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 0 3 0 3
Fulgent Genetics, Fulgent Genetics 0 0 2 1 3
Baylor Genetics 1 0 1 0 2
Revvity Omics, Revvity 0 0 2 0 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
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
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 1 0 1
New York Genome Center 0 0 1 0 1
Neuberg Centre For Genomic Medicine, NCGM 0 0 1 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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