ClinVar Miner

Variants studied for lymphangioma

Included ClinVar conditions (8):
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
7 4 18 0 7 36

Gene and significance breakdown #

Total genes and gene combinations: 12
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Gene or gene combination pathogenic likely pathogenic uncertain significance benign total
PTPN14 2 0 15 7 24
COL11A2 0 1 1 0 2
​intergenic 0 1 0 0 1
BRAF 1 0 0 0 1
CFTR 1 0 0 0 1
CYFIP1, NIPA1, NIPA2, TUBGCP5 0 0 1 0 1
LEMD3 0 0 1 0 1
LZTR1 1 0 0 0 1
PIEZO1 0 1 0 0 1
PIK3CA 0 1 0 0 1
RASA1 1 0 0 0 1
SOS1 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 13
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Submitter pathogenic likely pathogenic uncertain significance benign total
Clinical Genomics Laboratory, Washington University in St. Louis 0 0 11 0 11
Genome-Nilou Lab 0 0 0 7 7
Revvity Omics, Revvity 0 0 4 0 4
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 3 0 0 0 3
OMIM 2 0 0 0 2
Center for Reproductive Medicine, Peking University Third Hospital 0 1 1 0 2
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 1 0 0 1
Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust 0 0 1 0 1
Talkowski Laboratory, Center for Human Genetic Research, Massachusetts General Hospital 0 1 0 0 1
Seattle Children's Hospital Molecular Genetics Laboratory, Seattle Children's Hospital 1 0 0 0 1
James Bennett Lab, Seattle Childrens Research Institute 1 0 0 0 1
Cytogenetics, Genetics Associates, Inc. 0 0 1 0 1
Institute of Tissue Medicine and Pathology, University of Bern 0 1 0 0 1

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