Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001426912 | SCV001629573 | likely benign | Senior-Loken syndrome 7; Bardet-Biedl syndrome 16 | 2023-10-05 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV004533713 | SCV004723959 | likely benign | SDCCAG8-related disorder | 2021-04-20 | 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). |