Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000862560 | SCV001003080 | likely benign | Bardet-Biedl syndrome | 2023-11-15 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV002495227 | SCV002797494 | likely benign | Bardet-Biedl syndrome 10 | 2021-10-20 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003983220 | SCV004796416 | likely benign | BBS10-related condition | 2020-08-10 | 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). |