Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001516582 | SCV001724880 | benign | not provided | 2024-01-19 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003931092 | SCV004740371 | benign | CEP250-related disorder | 2019-10-16 | criteria provided, single submitter | clinical testing | This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). |