ClinVar Miner

Variants studied for Capillary malformation-arteriovenous malformation 2

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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 23 0 6 64

Gene and significance breakdown #

Total genes and gene combinations: 3
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Gene or gene combination pathogenic likely pathogenic uncertain significance benign total
EPHB4 12 13 16 5 43
EPHB4, LOC126860124 6 8 7 0 19
EPHB4, SLC12A9 1 0 0 1 2

Submitter and significance breakdown #

Total submitters: 19
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Submitter pathogenic likely pathogenic uncertain significance benign total
SIB Swiss Institute of Bioinformatics 3 9 16 0 28
OMIM 10 0 0 0 10
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 5 0 3 0 8
Molecular Genetics, Royal Melbourne Hospital 2 3 1 0 6
Genome-Nilou Lab 0 0 0 5 5
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 0 3 0 0 3
Seattle Children's Hospital Molecular Genetics Laboratory, Seattle Children's Hospital 0 1 1 0 2
Baylor Genetics 0 0 1 0 1
Institute of Human Genetics, University of Goettingen 0 0 1 0 1
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 1 0 0 1
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 1 0 0 1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 0 1 0 0 1
Genetics and Molecular Pathology, SA Pathology 0 1 0 0 1
Johns Hopkins Genomics, Johns Hopkins University 1 0 0 0 1
New York Genome Center 0 1 0 0 1
Pediatric Genetics Clinic, Sheba Medical Center 1 0 0 0 1
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 0 0 0 1 1
Institute Of Reproduction And Development, Obstetrics and Gynecology Hospital, Fudan University 0 1 0 0 1
Department Of Dermatology And Venereology, Fujian Medical University Union Hospital 0 1 0 0 1

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