Total submissions: 11
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000150504 | SCV000168223 | benign | not specified | 2014-03-11 | criteria provided, single submitter | clinical testing | This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease. |
Laboratory for Molecular Medicine, |
RCV000150504 | SCV000197690 | benign | not specified | 2013-02-21 | criteria provided, single submitter | clinical testing | Ala22Val in exon 2 of DOCK8: This variant is not expected to have clinical signi ficance because it has been identified in 33.0% (1051/3182) of European American chromosomes from a broad population by the NHLBI Exome Sequencing Project (http ://evs.gs.washington.edu/EVS; dbSNP rs506121). |
Oxford Medical Genetics Laboratories, |
RCV000210052 | SCV000257462 | benign | Combined immunodeficiency due to DOCK8 deficiency | 2015-08-25 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV000150504 | SCV000317180 | benign | not specified | criteria provided, single submitter | clinical testing | ||
Illumina Laboratory Services, |
RCV000210052 | SCV000479382 | 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. |
Invitae | RCV003761770 | SCV001724050 | benign | Autosomal recessive hyper-IgE syndrome | 2024-02-01 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV000210052 | SCV001763314 | benign | Combined immunodeficiency due to DOCK8 deficiency | 2021-07-14 | criteria provided, single submitter | clinical testing | |
Unidad de Genómica Garrahan, |
RCV000150504 | SCV004102261 | benign | not specified | 2023-11-12 | criteria provided, single submitter | clinical testing | This variant is classified as Benign based on local population frequency. This variant was detected in 42% of patients studied by a panel of primary immunodeficiencies. Number of patients: 40. Only high quality variants are reported. |
Diagnostic Laboratory, |
RCV000150504 | SCV001740934 | benign | not specified | no assertion criteria provided | clinical testing | ||
Genome Diagnostics Laboratory, |
RCV000150504 | SCV001927379 | benign | not specified | no assertion criteria provided | clinical testing | ||
Genome |
RCV001824623 | SCV002074631 | not provided | not provided | no assertion provided | phenotyping only | Variant interpreted as Benign and reported on 04-27-2020 by Lab or GTR ID 500031. GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant. This variant was reported in an individual referred for clinical diagnostic genetic testing. |