ClinVar Miner

Variants studied for Capillary malformation-arteriovenous malformation 1

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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
27 5 71 28 14 144

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
CCNH, RASA1 23 5 54 21 10 112
RASA1 2 0 17 7 4 30
CCNH, LOC644285, RASA1 2 0 0 0 0 2

Submitter and significance breakdown #

Total submitters: 12
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Illumina Clinical Services Laboratory,Illumina 0 0 34 22 14 70
Invitae 17 4 36 5 0 62
OMIM 5 0 0 0 0 5
Baylor Genetics 1 1 1 0 0 3
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 2 0 0 0 0 2
Mendelics 0 0 0 0 1 1
Center of Genomic medicine, Geneva,University Hospital of Geneva 1 0 0 0 0 1
Daryl Scott Lab,Baylor College of Medicine 1 0 0 0 0 1
SIB Swiss Institute of Bioinformatics 0 0 1 0 0 1
Broad Institute Rare Disease Group, Broad Institute 0 0 0 0 1 1
Johns Hopkins Genomics, Johns Hopkins University 0 0 0 1 0 1
Excellence Center for Genomics and Precision Medicine, King Chulalongkorn Memorial Hospital and Chulalongkorn University,Chulalongkorn University 1 0 0 0 0 1

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