Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV001571528 | SCV001796025 | likely benign | not provided | 2019-11-11 | criteria provided, single submitter | clinical testing | In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge; In-silico analysis, which includes splice predictors and evolutionary conservation, is inconclusive as to whether the variant alters gene splicing. In the absence of RNA/functional studies, the actual effect of this sequence change is unknown. |
Invitae | RCV002072219 | SCV002391969 | benign | Congenital adrenal hypoplasia, X-linked; 46,XY sex reversal 2 | 2024-01-19 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV002072219 | SCV002794912 | likely benign | Congenital adrenal hypoplasia, X-linked; 46,XY sex reversal 2 | 2021-08-15 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV004536203 | SCV004723875 | benign | NR0B1-related disorder | 2020-01-02 | criteria provided, single submitter | clinical testing | This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). |