Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001506685 | SCV001711617 | likely benign | not provided | 2023-05-01 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003948484 | SCV004757899 | likely benign | CEP250-related disorder | 2019-02-22 | 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). |