Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000873006 | SCV001014923 | likely benign | Bardet-Biedl syndrome | 2023-06-14 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003908290 | SCV004736917 | likely benign | BBS1-related condition | 2022-11-14 | 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). |
Natera, |
RCV001274038 | SCV001457743 | uncertain significance | Bardet-Biedl syndrome 1 | 2020-03-10 | no assertion criteria provided | clinical testing |