ClinVar Miner

Variants studied for capillary malformation

Included ClinVar conditions (17):
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
399 94 504 166 144 2 1236

Gene and significance breakdown #

Total genes and gene combinations: 15
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
ACVRL1 140 37 112 31 67 2 374
ENG 120 23 155 53 32 0 354
CCNH, RASA1 36 11 83 34 17 0 174
ENG, LOC102723566 62 9 47 24 10 0 141
RASA1 4 0 33 9 8 0 51
GDF2 3 0 25 7 7 0 41
SMAD4 0 0 27 8 3 0 38
EPHB4 12 9 16 0 0 0 33
STAMBP 9 3 4 0 0 0 14
PIK3CA 7 2 2 0 0 0 10
CCNH, LOC644285, RASA1 2 0 0 0 0 0 2
AKT3 1 0 0 0 0 0 1
EPHB4, SLC12A9 1 0 0 0 0 0 1
GNAQ 1 0 0 0 0 0 1
PIK3R2 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 38
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 305 60 313 88 65 0 831
Illumina Clinical Services Laboratory,Illumina 0 0 168 79 57 0 304
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 23 5 7 2 52 0 89
OMIM 56 0 0 0 0 0 56
SIB Swiss Institute of Bioinformatics 3 10 17 1 0 0 31
Medical & Molecular Genetics Group,University of Lincoln 30 0 0 0 0 0 30
Fulgent Genetics,Fulgent Genetics 10 1 4 0 0 0 15
Genetic Services Laboratory, University of Chicago 3 2 3 0 0 0 8
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
Baylor Genetics 4 0 0 0 0 0 4
Genome Diagnostics Laboratory,VU University Medical Center Amsterdam 0 0 0 1 3 0 4
Institute of Human Genetics,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
Department of Pediatrics and Neonatology,Nagoya City University Graduate School of Medical Sciences 3 0 0 0 0 0 3
Undiagnosed Diseases Network,NIH 3 0 0 0 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
GeneReviews 1 0 0 0 0 0 1
Institute of Human Genetics,Klinikum rechts der Isar 1 0 0 0 0 0 1
UCLA Clinical Genomics Center, UCLA 0 1 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
Institute for Clinical Genetics, TU Dresden 1 0 0 0 0 0 1
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 1 0 0 0 0 1
Bruce Lefroy Centre, Murdoch Childrens Research Institute 0 1 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
Génétique des Maladies du Développement, Hospices Civils de Lyon 0 0 1 0 0 0 1
Molecular Diagnostics Laboratory, M Health: University of Minnesota 1 0 0 0 0 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
Johns Hopkins Genomics,Johns Hopkins University 0 0 1 0 0 0 1
University of Washington Department of Laboratory Medicine, University of Washington 0 1 0 0 0 0 1

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