Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000461699 | SCV000563607 | likely benign | Bardet-Biedl syndrome | 2024-01-25 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV002496849 | SCV002810264 | likely benign | Bardet-Biedl syndrome 5 | 2021-09-15 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003932772 | SCV004751854 | benign | BBS5-related condition | 2019-09-19 | criteria provided, single submitter | clinical testing | This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). |