Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV002148967 | SCV002461599 | likely benign | Senior-Loken syndrome 7; Bardet-Biedl syndrome 16 | 2022-08-21 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV004531507 | SCV004755596 | likely benign | SDCCAG8-related disorder | 2022-04-06 | 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). |