Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV003508675 | SCV004286470 | likely benign | Holoprosencephaly 5 | 2023-11-24 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003929253 | SCV004745421 | likely benign | ZIC2-related disorder | 2019-09-18 | 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). |