Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000861817 | SCV001002221 | benign | Bardet-Biedl syndrome | 2024-01-23 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV002501202 | SCV002798429 | likely benign | Bardet-Biedl syndrome 4 | 2021-08-20 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003948062 | SCV004760875 | likely benign | BBS4-related condition | 2023-06-23 | 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). |