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
16 17 19 0 5 52

Gene and significance breakdown #

Total genes and gene combinations: 2
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Gene or gene combination pathogenic likely pathogenic uncertain significance benign total
EPHB4 15 17 19 4 50
EPHB4, SLC12A9 1 0 0 1 2

Submitter and significance breakdown #

Total submitters: 11
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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
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
Institute of Human Genetics, University of Goettingen 0 0 1 0 1
Victorian Clinical Genetics Services,Murdoch Childrens Research Institute 0 0 1 0 1
Genetics and Molecular Pathology, SA Pathology 0 1 0 0 1
Seattle Children's Hospital Molecular Genetics Laboratory, Seattle Children's Hospital 0 1 0 0 1
New York Genome Center 0 1 0 0 1
Pediatric Genetics Clinic,Sheba Medical Center 1 0 0 0 1

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