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
22 3 44 23 14 105

Gene and significance breakdown #

Total genes and gene combinations: 4
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
CCNH, RASA1 17 3 36 16 10 81
RASA1 2 0 8 7 4 21
CCNH, LOC644285, RASA1 2 0 0 0 0 2
KRAS 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 20
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Illumina Laboratory Services,Illumina 0 0 35 22 14 71
Invitae 5 0 5 0 0 10
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
PerkinElmer Genomics 2 0 0 0 0 2
Centogene AG - the Rare Disease Company 0 1 1 0 0 2
Victorian Clinical Genetics Services,Murdoch Childrens Research Institute 2 0 0 0 0 2
Johns Hopkins Genomics, Johns Hopkins University 0 0 1 1 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
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 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
Arin Greene Laboratory,Boston Children's Hospital, Harvard Medical School 1 0 0 0 0 1
Laboratorio de Genética Hospitales Universitarios Virgen de las Nieves y Clínico San Cecilio (Granada, Spain), Hospitales Universitarios Virgen de las Nieves y Clínico San Cecilio (Granada, Spain) 1 0 0 0 0 1
Excellence Center for Genomics and Precision Medicine, King Chulalongkorn Memorial Hospital and Chulalongkorn University,Chulalongkorn University 1 0 0 0 0 1
Genomics England Pilot Project,Genomics England 0 1 0 0 0 1
Molecular Genetics, Royal Melbourne Hospital 0 0 1 0 0 1

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