Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000868635 | SCV001009990 | likely benign | Bardet-Biedl syndrome | 2024-01-04 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003965725 | SCV004777920 | likely benign | BBS1-related condition | 2020-05-07 | 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, |
RCV001830902 | SCV002094778 | likely benign | Bardet-Biedl syndrome 1 | 2020-12-02 | no assertion criteria provided | clinical testing |