Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000697907 | SCV000826541 | likely benign | Joubert syndrome 8 | 2024-01-26 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003957795 | SCV004769509 | likely benign | ARL13B-related condition | 2022-11-08 | 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). |