Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001509951 | SCV001716867 | benign | not provided | 2024-01-11 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003940886 | SCV004759824 | likely benign | LIFR-related disorder | 2019-11-20 | 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). |
Natera, |
RCV001826351 | SCV002084272 | benign | Stuve-Wiedemann syndrome | 2020-03-03 | no assertion criteria provided | clinical testing |