Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000872744 | SCV001014608 | likely benign | Bardet-Biedl syndrome | 2023-12-18 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV002501323 | SCV002808219 | likely benign | Bardet-Biedl syndrome 10 | 2021-12-30 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003938319 | SCV004758864 | likely benign | BBS10-related condition | 2019-11-25 | 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). |