Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000155531 | SCV000205230 | benign | not specified | 2013-02-21 | criteria provided, single submitter | clinical testing | Arg1008Trp in exon 25 of DOCK8: This variant is not expected to have clinical si gnificance because it has been identified in 1.2% (52/4406) of African American chromosomes from a broad population by the NHLBI Exome Sequencing Project (http: //evs.gs.washington.edu/EVS; dbSNP rs16937932). |
Illumina Laboratory Services, |
RCV001085977 | SCV000480257 | benign | Combined immunodeficiency due to DOCK8 deficiency | 2018-01-13 | 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. |
Gene |
RCV000766854 | SCV000512849 | benign | not provided | 2020-02-10 | criteria provided, single submitter | clinical testing | |
Invitae | RCV003761796 | SCV000645692 | benign | Autosomal recessive hyper-IgE syndrome | 2024-01-29 | criteria provided, single submitter | clinical testing | |
Genetic Services Laboratory, |
RCV000155531 | SCV002072306 | benign | not specified | 2018-08-23 | criteria provided, single submitter | clinical testing |