Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Illumina Laboratory Services, |
RCV000645181 | SCV000480245 | benign | Combined immunodeficiency due to DOCK8 deficiency | 2018-01-12 | criteria provided, single submitter | clinical testing | This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease. |
Laboratory for Molecular Medicine, |
RCV000609912 | SCV000711310 | benign | not specified | 2013-02-21 | criteria provided, single submitter | clinical testing | Pro954Pro in exon 23 of DOCK8: This variant is not expected to have clinical sig nificance because it does not alter an amino acid residue and is not located wit hin the splice consensus sequence. It has been identified in 1.0% (83/8600) of E uropean American chromosomes from a broad population by the NHLBI Exome Sequenci ng Project (http://evs.gs.washington.edu/EVS; dbSNP rs117610764). |
Invitae | RCV003761953 | SCV000766923 | benign | Autosomal recessive hyper-IgE syndrome | 2024-01-29 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001618674 | SCV001843952 | benign | not provided | 2015-03-03 | criteria provided, single submitter | clinical testing | |
Genetic Services Laboratory, |
RCV000609912 | SCV002072305 | benign | not specified | 2020-05-15 | criteria provided, single submitter | clinical testing |