ClinVar Miner

Variants studied for EPHB4-associated vascular malformation spectrum

Included ClinVar conditions (4):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:

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
30 39 48 2 6 114

Gene and significance breakdown #

Total genes and gene combinations: 3
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
EPHB4 18 29 36 2 5 83
EPHB4, LOC126860124 10 10 11 0 0 27
EPHB4, SLC12A9 2 0 1 0 1 4

Submitter and significance breakdown #

Total submitters: 33
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
SIB Swiss Institute of Bioinformatics 3 9 16 0 0 28
Clinical Genomics Laboratory, Washington University in St. Louis 2 4 13 0 0 19
OMIM 13 0 0 0 0 13
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 8 2 3 0 0 13
Molecular Genetics, Royal Melbourne Hospital 3 4 3 0 0 10
3billion 1 3 1 0 0 5
Genome-Nilou Lab 0 0 0 0 5 5
Juno Genomics, Hangzhou Juno Genomics, Inc 1 3 1 0 0 5
Fulgent Genetics, Fulgent Genetics 0 0 2 2 0 4
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 0 3 0 0 0 3
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 2 0 0 2
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 0 2 0 0 0 2
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 0 0 1 0 1 2
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden 0 0 2 0 0 2
New York Genome Center 0 1 1 0 0 2
Seattle Children's Hospital Molecular Genetics Laboratory, Seattle Children's Hospital 0 1 1 0 0 2
Baylor Genetics 0 0 1 0 0 1
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 1 0 0 0 0 1
Department Of Dermatology And Venereology, Fujian Medical University Union Hospital 0 1 0 0 0 1
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 1 0 0 1
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 1 0 0 0 1
Genetics and Molecular Pathology, SA Pathology 0 1 0 0 0 1
HUSP Clinical Genetics Laboratory, Hospital Universitario San Pedro De Logroño (HUSP) 0 1 0 0 0 1
Institute Of Reproduction And Development, Obstetrics and Gynecology Hospital, Fudan University 0 1 0 0 0 1
Institute of Human Genetics, University of Goettingen 0 0 1 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 0 1 0 0 0 1
Johns Hopkins Genomics, Johns Hopkins University 1 0 0 0 0 1
Medical and Scientific Branch, Hong Kong Genome Institute 0 1 0 0 0 1
Molecular Genetics Department, Kulakov National Medical Research Center for Obstetrics, Gynecology and Perinatology 0 1 0 0 0 1
Obstetrics Unit, Tongji Hospital, Huazhong University of Science and Technology 0 1 0 0 0 1
Pediatric Genetics Clinic, Sheba Medical Center 1 0 0 0 0 1
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 0 1 0 0 0 1
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 1 0 0 0 1

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