ClinVar Miner

Variants studied for Congenital lipomatous overgrowth, vascular malformations, and epidermal nevi

Coded as:
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 total
11 2 0 0 0 12

Gene and significance breakdown #

Total genes and gene combinations: 2
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Gene or gene combination pathogenic likely pathogenic total
PIK3CA 10 2 11
GNA11 1 0 1

Submitter and significance breakdown #

Total submitters: 6
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Submitter pathogenic likely pathogenic total
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 8 0 8
OMIM 4 0 4
GeneReviews 4 0 4
Institute of Human Genetics, University of Leipzig Medical Center 1 1 2
Institute of Human Genetics, Uniklinik RWTH Aachen 0 1 1
Medical Genetics Laboratory,Aldo Moro University of Bari 1 0 1

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