ClinVar Miner

Variants studied for Capillary malformation-arteriovenous malformation 2

Coded as:
Minimum submission review status: Collection method:
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Gene type:
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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
13 10 16 0 0 35

Gene and significance breakdown #

Total genes and gene combinations: 2
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Gene or gene combination pathogenic likely pathogenic uncertain significance total
EPHB4 12 10 16 34
EPHB4, SLC12A9 1 0 0 1

Submitter and significance breakdown #

Total submitters: 3
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Submitter pathogenic likely pathogenic uncertain significance total
SIB Swiss Institute of Bioinformatics 3 9 16 28
OMIM 10 0 0 10
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 0 2 0 2

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