Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV002065521 | SCV002461181 | likely benign | Holoprosencephaly 5 | 2022-10-12 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003948385 | SCV004766145 | likely benign | ZIC2-related disorder | 2019-12-26 | 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). |