Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV001705568 | SCV000512847 | likely benign | not provided | 2018-07-09 | criteria provided, single submitter | clinical testing | |
Invitae | RCV003761974 | SCV000645684 | benign | Autosomal recessive hyper-IgE syndrome | 2024-01-14 | criteria provided, single submitter | clinical testing | |
Baylor Genetics | RCV000530757 | SCV001527702 | uncertain significance | Combined immunodeficiency due to DOCK8 deficiency | 2018-08-08 | criteria provided, single submitter | clinical testing | This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868]. |
Genetic Services Laboratory, |
RCV001821159 | SCV002072294 | benign | not specified | 2021-04-02 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003970112 | SCV004777123 | likely benign | DOCK8-related disorder | 2022-05-27 | criteria provided, single submitter | clinical testing | This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). |