Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Illumina Laboratory Services, |
RCV001844129 | SCV000434121 | likely benign | Hyperimmunoglobulin M syndrome | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV000590173 | SCV000697795 | benign | not provided | 2016-08-17 | criteria provided, single submitter | clinical testing | Variant summary: The CD40 c.-69delT variant involves the alteration of a non-conserved nucleotide. One in silico tool predicts a benign outcome for this variant. This variant was found in 242/17514 control chromosomes, predominantly observed in the African subpopulation at a frequency of 0.0428 (239/5580). This frequency is about 271 times the estimated maximal expected allele frequency of a pathogenic CD40 variant (0.0001581), suggesting this is likely a benign polymorphism found primarily in the populations of origin. The variant of interest has not, to our knowledge, been reported in affected individuals via publications and/or reputable databases/clinical diagnostic laboratories; nor evaluated for functional impact by in vivo/vitro studies. Taken together, this variant is classified as benign. |