Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV002111185 | SCV002385324 | likely benign | not provided | 2023-11-18 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003968859 | SCV004785746 | likely benign | CEP250-related disorder | 2023-03-14 | 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). |