Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Prevention |
RCV003891989 | SCV000316220 | benign | BBS12-related condition | 2020-11-17 | 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). |
Invitae | RCV000861638 | SCV001002011 | benign | Bardet-Biedl syndrome | 2024-01-29 | criteria provided, single submitter | clinical testing | |
Genetic Services Laboratory, |
RCV000254113 | SCV002071106 | likely benign | not specified | 2021-07-23 | criteria provided, single submitter | clinical testing |