ClinVar Miner

Variants studied for capillary malformation

Included ClinVar conditions (18):
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 not provided total
879 283 1159 1079 237 6 3432

Gene and significance breakdown #

Total genes and gene combinations: 20
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
ENG 270 63 290 293 69 0 915
CCNH, RASA1 99 29 331 332 29 0 794
ACVRL1 316 125 173 140 85 3 790
ENG, LOC102723566 125 34 101 133 25 2 386
RASA1 23 4 149 68 9 0 243
GDF2 10 4 60 103 11 0 177
EPHB4 13 13 20 2 5 0 49
SMAD4 0 0 27 8 3 1 39
EPHB4, LOC126860124 7 8 8 0 0 0 20
GNAQ 5 2 0 0 0 0 6
PIK3CA 3 0 0 0 0 0 3
CCNH, LOC644285, RASA1 2 0 0 0 0 0 2
EPHB4, SLC12A9 1 0 0 0 1 0 2
ACVRL1, LOC130007932 1 0 0 0 0 0 1
AGAP10, AGAP9, ANXA8, ANXA8L1, ARHGAP22, C10orf53, C10orf71, CHAT, DRGX, ERCC6, FAM170B, FAM25C, FAM25G, FRMPD2, GDF10, GDF2, GPRIN2, LRRC18, MAPK8, MSMB, NCOA4, NPY4R, OGDHL, PARG, PGBD3, PTPN20, RBP3, SLC18A3, SYT15, TIMM23, TMEM273, VSTM4, WDFY4, ZNF488 1 0 0 0 0 0 1
AK1, DPM2, ENG, PIP5KL1, ST6GALNAC4, ST6GALNAC6 1 0 0 0 0 0 1
GNA11 1 0 0 0 0 0 1
KRAS 1 0 0 0 0 0 1
MAP2K1 1 0 0 0 0 0 1
PSEN1 0 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 81
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 726 153 893 966 158 0 2896
Illumina Laboratory Services, Illumina 1 0 172 87 57 0 306
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 60 12 35 24 64 0 195
NIHR Bioresource Rare Diseases, University of Cambridge 62 35 6 13 1 0 117
Fulgent Genetics, Fulgent Genetics 17 8 44 15 3 0 87
OMIM 44 0 0 0 0 0 44
Genome-Nilou Lab 0 0 0 0 43 0 43
Molecular Genetics, Royal Melbourne Hospital 18 12 11 1 0 0 42
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 27 4 5 0 0 0 36
ClinGen Hereditary Hemorrhagic Telangiectasia Variant Curation Expert Panel, ClinGen 10 2 10 8 2 0 32
SIB Swiss Institute of Bioinformatics 3 9 17 1 0 0 30
Rare Disease Genomics Group, St George's University of London 30 0 0 0 0 0 30
Revvity Omics, Revvity 4 1 13 0 0 0 18
Seattle Children's Hospital Molecular Genetics Laboratory, Seattle Children's Hospital 11 2 2 0 0 0 15
Baylor Genetics 3 3 6 0 0 0 12
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 6 3 2 0 0 0 11
Genetics and Molecular Pathology, SA Pathology 3 6 1 0 0 0 10
Genetics, Medical University of Vienna 0 8 0 0 0 0 8
Johns Hopkins Genomics, Johns Hopkins University 1 0 5 2 0 0 8
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 5 1 1 0 0 0 7
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 3 3 0 0 0 0 6
Center of Genomic medicine, Geneva, University Hospital of Geneva 4 2 0 0 0 0 6
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 1 0 5 0 0 0 6
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 2 4 0 0 0 0 6
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 2 2 1 0 1 0 6
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 3 2 0 0 0 0 5
Institute of Human Genetics, University of Goettingen 1 2 2 0 0 0 5
Mendelics 0 0 1 0 4 0 5
Clinical Genomics Laboratory, Washington University in St. Louis 3 1 1 0 0 0 5
Institute of Human Genetics, University of Leipzig Medical Center 3 1 1 0 0 0 5
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 3 2 0 5
MGZ Medical Genetics Center 2 2 0 0 0 0 4
Genome Diagnostics Laboratory, Amsterdam University Medical Center 0 0 0 1 3 0 4
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 2 2 0 0 0 0 4
deCODE genetics, Amgen 1 3 0 0 0 0 4
3billion 1 1 2 0 0 0 4
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 0 0 3 0 3
CSER _CC_NCGL, University of Washington 0 0 2 1 0 0 3
Centre for Mendelian Genomics, University Medical Centre Ljubljana 3 0 0 0 0 0 3
New York Genome Center 1 1 1 0 0 0 3
Centogene AG - the Rare Disease Company 0 1 1 0 0 0 2
ClinVar Staff, National Center for Biotechnology Information (NCBI) 0 0 0 0 0 2 2
Blueprint Genetics 1 1 0 0 0 0 2
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 1 1 0 0 0 0 2
Undiagnosed Diseases Network, NIH 2 0 0 0 0 0 2
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 2 2
GenomeConnect - Brain Gene Registry 0 0 0 0 0 2 2
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 0 2 0 0 0 2
Genomics And Bioinformatics Analysis Resource, Columbia University 1 1 0 0 0 0 2
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet 0 0 1 0 0 0 1
Genetic Services Laboratory, University of Chicago 1 0 0 0 0 0 1
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 1 0 0 0 0 1
Mayo Clinic Laboratories, Mayo Clinic 1 0 0 0 0 0 1
Knight Diagnostic Laboratories, Oregon Health and Sciences University 0 0 1 0 0 0 1
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 1 0 0 0 0 1
Centro de Genética y Biología Molecular, Universidad de San Martín de Porres 0 1 0 0 0 0 1
Diagnostics Division, CENTRE FOR DNA FINGERPRINTING AND DIAGNOSTICS 0 1 0 0 0 0 1
Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin 1 0 0 0 0 0 1
Petrovsky National Research Centre of Surgery, The Federal Agency for Scientific Organizations 1 0 0 0 0 0 1
Daryl Scott Lab, Baylor College of Medicine 1 0 0 0 0 0 1
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 1 0 0 0 0 0 1
Department of Traditional Chinese Medicine, Fujian Provincial Hospital 0 0 1 0 0 0 1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 1 0 0 0 0 0 1
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 0 0 0 1 0 1
Genomic Medicine Lab, University of California San Francisco 1 0 0 0 0 0 1
Breda Genetics srl 1 0 0 0 0 0 1
Institute of Human Genetics, Heidelberg University 1 0 0 0 0 0 1
University of Washington Department of Laboratory Medicine, University of Washington 0 1 0 0 0 0 1
Arin Greene Laboratory, Boston Children's Hospital, Harvard Medical School 1 0 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 0 1
Excellence Center for Genomics and Precision Medicine, King Chulalongkorn Memorial Hospital and Chulalongkorn University, Chulalongkorn University 1 0 0 0 0 0 1
Beijing Key Laboratry for Genetics of Birth Defects, Beijing Children's Hospital 1 0 0 0 0 0 1
Pediatric Genetics Clinic, Sheba Medical Center 1 0 0 0 0 0 1
Neuberg Centre For Genomic Medicine, NCGM 1 0 0 0 0 0 1
Genomics England Pilot Project, Genomics England 0 1 0 0 0 0 1
Department of Human Genetics, Hannover Medical School 0 1 0 0 0 0 1
Gemeinschaftspraxis fuer Humangenetik Dresden 0 1 0 0 0 0 1
Institute Of Reproduction And Development, Obstetrics and Gynecology Hospital, Fudan University 0 1 0 0 0 0 1
Department Of Dermatology And Venereology, Fujian Medical University Union Hospital 0 1 0 0 0 0 1
Department of Laboratory Medicine, Seoul National University Bundang Hospital 0 1 0 0 0 0 1
HHT Research Lab - C. Olivieri, University Of Pavia 1 0 0 0 0 0 1

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