Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000905355 | SCV001049934 | likely benign | Holoprosencephaly 5 | 2022-02-08 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003968307 | SCV004787454 | likely benign | ZIC2-related condition | 2019-02-20 | 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). |