ClinVar Miner

Variants studied for capillary hemangioma

Included ClinVar conditions (10):
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 risk factor total
7 4 6 2 2 2 22

Gene and significance breakdown #

Total genes and gene combinations: 14
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign risk factor total
KDR 1 0 2 1 1 1 5
ANTXR1 0 0 0 1 1 1 3
FAT4 0 0 2 0 0 0 2
FLT4 1 0 1 0 0 0 2
​intergenic 1 0 0 0 0 0 1
AKT3 0 1 0 0 0 0 1
ARID1B 1 0 0 0 0 0 1
CCNH, RASA1 1 0 0 0 0 0 1
GNA14 0 1 0 0 0 0 1
LOC107303340, VHL 1 0 0 0 0 0 1
MYH9 0 1 0 0 0 0 1
NPC1 0 0 1 0 0 0 1
NRAS 0 1 0 0 0 0 1
VHL 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 14
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign risk factor total
OMIM 2 0 0 0 0 2 4
Seattle Children's Hospital Molecular Genetics Laboratory, Seattle Children's Hospital 1 0 2 0 0 0 3
KCCC/NGS Laboratory, Kuwait Cancer Control Center 0 0 0 2 1 0 3
Clinical Genomics Laboratory, Washington University in St. Louis 0 1 1 0 0 0 2
Centre for Mendelian Genomics, University Medical Centre Ljubljana 1 1 0 0 0 0 2
Talkowski Laboratory, Center for Human Genetic Research, Massachusetts General Hospital 1 0 0 0 0 0 1
Yale Center for Mendelian Genomics, Yale University 0 1 0 0 0 0 1
Center for Personalized Medicine, Children's Hospital Los Angeles 1 0 0 0 0 0 1
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 0 1 0 1
Kahle Lab, Yale University 0 1 0 0 0 0 1
Genomic Medicine Lab, University of California San Francisco 0 0 1 0 0 0 1
Cancer medicine, Gaomi People's Hospital 1 0 0 0 0 0 1
Molecular Genetics Lab, CHRU Brest 0 0 1 0 0 0 1
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 0 0 1 0 0 0 1

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