ClinVar Miner

Variants studied for CLOVES syndrome

Included ClinVar conditions (3):
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
13 7 3 0 0 3 22

Gene and significance breakdown #

Total genes and gene combinations: 3
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Gene or gene combination pathogenic likely pathogenic uncertain significance not provided total
PIK3CA 12 4 3 3 18
PIK3R1 0 3 0 0 3
GNA11 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 13
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Submitter pathogenic likely pathogenic uncertain significance not provided total
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 8 0 0 0 8
Fulgent Genetics, Fulgent Genetics 2 0 3 0 5
OMIM 4 0 0 0 4
GeneReviews 1 0 0 3 4
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet 1 1 0 0 2
Institute of Human Genetics, University of Leipzig Medical Center 1 1 0 0 2
Vascular Anomalies Center, Boston Children's Hospital, Harvard Medical School 0 2 0 0 2
Institute of Human Genetics, FAU Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg 1 0 0 0 1
Institute for Human Genetics and Genomic Medicine, Uniklinik RWTH Aachen 0 1 0 0 1
Genetics and Molecular Pathology, SA Pathology 0 1 0 0 1
Medical Genetics Laboratory, Aldo Moro University of Bari 1 0 0 0 1
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 0 1 0 0 1
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 1 0 0 0 1

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