This variant affects the gene LOC126805720, TIE1 (CDK7 strongly-dependent group 2 enhancer GRCh37_chr1:43786614-43787813| tyrosine kinase with immunoglobulin like and EGF like domains 1) found on Chromosome 1. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable.
Pathogenic; Lymphatic malformation 11