ClinVar Miner

Variants studied for capillary malformation

Included ClinVar conditions (12):
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
492 136 599 261 152 2 1547

Gene and significance breakdown #

Total genes and gene combinations: 13
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
ENG 171 40 191 86 32 0 482
ACVRL1 170 58 124 51 74 2 455
CCNH, RASA1 45 12 96 45 17 0 207
ENG, LOC102723566 79 14 68 38 11 0 197
RASA1 7 1 45 13 8 0 70
GDF2 3 1 32 20 7 0 59
SMAD4 0 0 27 8 3 0 38
EPHB4 12 10 16 0 0 0 34
CCNH, LOC644285, RASA1 2 0 0 0 0 0 2
ACVRL1, FH 1 0 0 0 0 0 1
AK1, DPM2, ENG, PIP5KL1, ST6GALNAC4, ST6GALNAC6 1 0 0 0 0 0 1
EPHB4, SLC12A9 1 0 0 0 0 0 1
GNAQ 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 39
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 367 69 403 165 66 0 1069
Illumina Clinical Services Laboratory,Illumina 0 0 168 79 57 0 304
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 40 9 17 13 60 0 139
NIHR Bioresource Rare Diseases, University of Cambridge 61 35 6 13 1 0 116
OMIM 44 0 0 0 0 0 44
SIB Swiss Institute of Bioinformatics 3 9 17 1 0 0 30
Medical & Molecular Genetics Group,University of Lincoln 30 0 0 0 0 0 30
Fulgent Genetics,Fulgent Genetics 9 1 2 0 0 0 12
Baylor Genetics 4 1 4 0 0 0 9
Genetics,Medical University of Vienna 0 8 0 0 0 0 8
Center of Genomic medicine, Geneva,University Hospital of Geneva 4 2 0 0 0 0 6
Mendelics 0 0 1 0 4 0 5
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 3 2 0 5
Genome Diagnostics Laboratory,VU University Medical Center Amsterdam 0 0 0 1 3 0 4
Clinical Genetics laboratory, University of Goettingen 1 2 0 0 0 0 3
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
Institute of Human Genetics, University of Leipzig Medical Center 3 0 0 0 0 0 3
Johns Hopkins Genomics, Johns Hopkins University 0 0 2 1 0 0 3
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, Klinikum rechts der Isar 1 1 0 0 0 0 2
Undiagnosed Diseases Network,NIH 2 0 0 0 0 0 2
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 1 1 0 0 0 0 2
Genetic Services Laboratory, University of Chicago 1 0 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
Centro de Genética y Biología Molecular, Universidad de San Martín de Porres 0 1 0 0 0 0 1
Center for Human Genetics and Laboratory Diagnostics, Dr. Klein, Dr. Rost and Colleagues 0 0 1 0 0 0 1
Daryl Scott Lab,Baylor College of Medicine 1 0 0 0 0 0 1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 0 0 1 0 0 0 1
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 1 0 0 0 0 0 1
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 1 0 0 0 1
Broad Institute Rare Disease Group, Broad Institute 0 0 0 0 1 0 1
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 1 0 0 0 0 0 1
Breda Genetics srl 1 0 0 0 0 0 1
University of Washington Department of Laboratory Medicine, University of Washington 0 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 0 1

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