Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001490711 | SCV001695282 | likely benign | not provided | 2023-12-31 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003921029 | SCV004732833 | likely benign | CEP250-related disorder | 2023-12-06 | 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). |