Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001062715 | SCV001227531 | likely benign | not provided | 2024-01-11 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003973040 | SCV004795005 | likely benign | CEP250-related disorder | 2022-02-03 | 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). |