ClinVar Miner

Variants studied for capillary malformation

Included ClinVar conditions (15):
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
223 53 297 179 59 2 772

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
ACVRL1 88 18 56 35 14 2 203
ENG 61 16 73 40 14 0 192
SMAD4 0 0 74 47 8 0 129
CCNH, RASA1 18 5 37 29 9 0 91
ENG, LOC102723566 30 10 30 19 6 0 89
RASA1 4 0 11 8 5 0 25
GDF2 3 0 11 1 3 0 18
STAMBP 9 3 3 0 0 0 13
PIK3CA 6 1 2 0 0 0 8
AKT3 1 0 0 0 0 0 1
CCNH, LOC644285, RASA1 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: 29
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 147 35 141 57 44 0 424
Illumina Clinical Services Laboratory,Illumina 0 0 150 122 13 0 285
OMIM 46 0 0 0 0 0 46
Medical & Molecular Genetics Group,University of Lincoln 30 0 0 0 0 0 30
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 1 0 0 0 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 Medical Center 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
SIB Swiss Institute of Bioinformatics 0 1 1 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
Undiagnosed Diseases Network,NIH 2 0 0 0 0 0 2
GeneReviews 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
Equipe Genetique des Anomalies du Developpement,Université de Bourgogne 0 0 1 0 0 0 1
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 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
University of Washington Department of Laboratory Medicine,University of Washington 0 1 0 0 0 0 1

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