Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001516739 | SCV001725070 | benign | not provided | 2023-12-27 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001516739 | SCV002008325 | likely benign | not provided | 2021-01-18 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003940934 | SCV004749331 | likely benign | LIFR-related disorder | 2019-07-12 | 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, |
RCV001832698 | SCV002084276 | likely benign | Stuve-Wiedemann syndrome | 2020-08-18 | no assertion criteria provided | clinical testing |