Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001423394 | SCV001625972 | likely benign | Bardet-Biedl syndrome | 2023-11-07 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003973272 | SCV004793723 | likely benign | BBS2-related condition | 2021-07-21 | 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). |