Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001519907 | SCV001728871 | benign | 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency | 2024-01-16 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000537388 | SCV001811646 | uncertain significance | not provided | 2021-02-08 | criteria provided, single submitter | clinical testing | Missense variants in this gene are often considered pathogenic (Stenson et al., 2014); In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: 30238986, 22371315, 10458450, 21037542) |