Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV002064718 | SCV002452809 | benign | Congenital adrenal hypoplasia, X-linked; 46,XY sex reversal 2 | 2022-09-29 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV002064718 | SCV002800259 | benign | Congenital adrenal hypoplasia, X-linked; 46,XY sex reversal 2 | 2021-07-22 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV004538320 | SCV004744328 | likely benign | NR0B1-related disorder | 2019-04-30 | 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). |