Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001489514 | SCV001694056 | likely benign | not provided | 2024-01-19 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003908749 | SCV004720582 | likely benign | CEP250-related disorder | 2019-07-03 | 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). |