Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000861225 | SCV001001482 | likely benign | Bardet-Biedl syndrome | 2023-10-30 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003908152 | SCV004719532 | likely benign | BBS10-related condition | 2021-02-15 | 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). |