Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000905595 | SCV001050184 | likely benign | not provided | 2024-01-31 | criteria provided, single submitter | clinical testing | |
Ce |
RCV000905595 | SCV004011334 | likely benign | not provided | 2024-02-01 | criteria provided, single submitter | clinical testing | CEP250: BP4, BS2 |
Prevention |
RCV003923066 | SCV004739771 | likely benign | CEP250-related disorder | 2022-04-01 | 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). |