Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000638375 | SCV000759877 | likely benign | Bardet-Biedl syndrome | 2023-02-22 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003892446 | SCV004716349 | likely benign | BBS5-related condition | 2021-07-13 | 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). |