Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000870163 | SCV001011643 | likely benign | Bardet-Biedl syndrome | 2024-01-22 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003948161 | SCV004765835 | likely benign | BBS12-related condition | 2022-04-13 | 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). |