ClinVar Miner

Variants studied for capillary malformation-arteriovenous malformation 2

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
19 21 27 2 6 68

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 12 13 19 2 5 47
EPHB4, LOC126860124 6 8 8 0 0 19
EPHB4, SLC12A9 1 0 0 0 1 2

Submitter and significance breakdown #

Total submitters: 21
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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
OMIM 10 0 0 0 0 10
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 5 0 3 0 0 8
Molecular Genetics, Royal Melbourne Hospital 2 3 1 0 0 6
Genome-Nilou Lab 0 0 0 0 5 5
Fulgent Genetics, Fulgent Genetics 0 0 1 2 0 3
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
Seattle Children's Hospital Molecular Genetics Laboratory, Seattle Children's Hospital 0 1 1 0 0 2
New York Genome Center 0 1 1 0 0 2
Baylor Genetics 0 0 1 0 0 1
Institute of Human Genetics, University of Goettingen 0 0 1 0 0 1
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 1 0 0 0 1
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 1 0 0 0 1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 0 1 0 0 0 1
Genetics and Molecular Pathology, SA Pathology 0 1 0 0 0 1
Johns Hopkins Genomics, Johns Hopkins University 1 0 0 0 0 1
Pediatric Genetics Clinic, Sheba Medical Center 1 0 0 0 0 1
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 0 0 0 0 1 1
Institute Of Reproduction And Development, Obstetrics and Gynecology Hospital, Fudan University 0 1 0 0 0 1
Department Of Dermatology And Venereology, Fujian Medical University Union Hospital 0 1 0 0 0 1

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