Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV002066334 | SCV002353052 | likely benign | 46,XY sex reversal 6 | 2022-09-17 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV002066334 | SCV002811269 | likely benign | 46,XY sex reversal 6 | 2022-03-31 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003943060 | SCV004760011 | likely benign | MAP3K1-related disorder | 2022-08-02 | 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). |