ClinVar Miner

Variants studied for capillary malformation-arteriovenous malformation syndrome

Included ClinVar conditions (6):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:

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
189 75 599 482 44 1342

Gene and significance breakdown #

Total genes and gene combinations: 9
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
CCNH, RASA1 134 41 390 398 29 964
RASA1 27 5 174 82 9 286
EPHB4 15 20 26 2 5 63
EPHB4, LOC126860124 8 8 9 0 0 22
CCNH, LOC644285, RASA1 2 0 0 0 0 2
EPHB4, SLC12A9 1 0 0 0 1 2
KRAS 1 0 0 0 0 1
MAP2K1 1 0 0 0 0 1
PIK3CA 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 48
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Labcorp Genetics (formerly Invitae), Labcorp 139 31 515 450 34 1169
Illumina Laboratory Services, Illumina 0 0 38 30 14 71
SIB Swiss Institute of Bioinformatics 3 9 17 0 0 29
Clinical Genomics Laboratory, Washington University in St. Louis 4 4 12 0 0 20
Fulgent Genetics, Fulgent Genetics 5 2 4 5 1 17
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 11 2 3 0 0 16
OMIM 15 0 0 0 0 15
Seattle Children's Hospital Molecular Genetics Laboratory, Seattle Children's Hospital 12 2 1 0 0 15
Revvity Omics, Revvity 1 0 7 0 0 8
Molecular Genetics, Royal Melbourne Hospital 2 3 3 0 0 8
Juno Genomics, Hangzhou Juno Genomics, Inc 2 3 1 0 0 6
Johns Hopkins Genomics, Johns Hopkins University 1 0 3 1 0 5
Genome-Nilou Lab 0 0 0 0 5 5
Baylor Genetics 1 1 2 0 0 4
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 4 0 0 4
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 1 3 0 0 0 4
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 0 1 1 0 1 3
New York Genome Center 0 1 2 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
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 1 1 0 0 0 2
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 1 1 0 0 0 2
Institute of Human Genetics, University of Goettingen 0 0 1 0 0 1
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 1 0 0 0 0 1
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 1 0 0 0 1
Mendelics 0 0 0 0 1 1
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 1 0 0 0 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
Genetics and Molecular Pathology, SA Pathology 0 1 0 0 0 1
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 0 0 0 1 1
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 0 1 0 0 0 1
HUSP Clinical Genetics Laboratory, Hospital Universitario San Pedro De Logroño (HUSP) 0 1 0 0 0 1
Genomic Medicine Lab, University of California San Francisco 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
Molecular Genetics Laboratory, Motol Hospital 0 1 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
Pediatric Genetics Clinic, Sheba Medical Center 1 0 0 0 0 1
Neuberg Centre For Genomic Medicine, NCGM 0 0 1 0 0 1
Genomics England Pilot Project, Genomics England 0 1 0 0 0 1
Institute Of Reproduction And Development, Obstetrics and Gynecology Hospital, Fudan University 0 1 0 0 0 1
Department Of Dermatology And Venereology, Fujian Medical University Union Hospital 0 1 0 0 0 1
MVZ Medizinische Genetik Mainz 0 1 0 0 0 1
Institute of Tissue Medicine and Pathology, University of Bern 0 1 0 0 0 1
Genetics Department, Catlab 0 1 0 0 0 1

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