Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001512007 | SCV001719342 | benign | not provided | 2024-01-22 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003908811 | SCV004718058 | benign | CEP250-related disorder | 2019-07-03 | 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). |