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 4 49 23 14 116

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 21 4 38 16 10 88
RASA1 3 0 11 7 4 25
CCNH, LOC644285, RASA1 2 0 0 0 0 2
KRAS 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 25
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Illumina Laboratory Services, Illumina 0 0 35 22 14 71
Revvity Omics, Revvity 1 0 7 0 0 8
Invitae 5 0 1 0 0 6
OMIM 5 0 0 0 0 5
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 4 1 0 0 0 5
Johns Hopkins Genomics, Johns Hopkins University 0 0 3 1 0 4
Baylor Genetics 1 1 1 0 0 3
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 2 0 0 0 0 2
Centogene AG - the Rare Disease Company 0 1 1 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
Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin 1 0 0 0 0 1
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 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
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 1 0 0 0 0 1
Seattle Children's Hospital Molecular Genetics Laboratory, Seattle Children's Hospital 1 0 0 0 0 1
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 0 0 0 1 1
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 1 0 0 0 0 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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