Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV002126792 | SCV002400442 | likely benign | Holoprosencephaly 4 | 2023-10-13 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003984194 | SCV004796417 | likely benign | TGIF1-related disorder | 2019-04-29 | 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). |