Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Clinical Molecular Genetics Laboratory, |
RCV000722070 | SCV000853249 | pathogenic | Congenital adrenal hypoplasia, X-linked | 2018-11-23 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000797777 | SCV000937356 | pathogenic | Congenital adrenal hypoplasia, X-linked; 46,XY sex reversal 2 | 2023-04-28 | criteria provided, single submitter | clinical testing | ClinVar contains an entry for this variant (Variation ID: 590884). For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals affected with NR0B1-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Glu307*) in the NR0B1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in NR0B1 are known to be pathogenic (PMID: 7990958, 15841486). |
Center for Genomic Medicine, |
RCV003483715 | SCV004231775 | benign | not specified | 2023-05-12 | criteria provided, single submitter | research |