Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000905275 | SCV001049851 | likely benign | Holoprosencephaly 5 | 2023-10-03 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003975774 | SCV004788788 | likely benign | ZIC2-related condition | 2019-03-04 | 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). |