Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001509753 | SCV001716614 | benign | 46,XY sex reversal 9 | 2022-07-05 | criteria provided, single submitter | clinical testing | |
Genetic Services Laboratory, |
RCV001816959 | SCV002070343 | likely benign | not specified | 2020-10-20 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003955613 | SCV004774457 | likely benign | ZFPM2-related disorder | 2019-07-18 | 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). |