Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000942096 | SCV001088010 | likely benign | not provided | 2024-01-30 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003978120 | SCV004795508 | likely benign | ALDH3A2-related condition | 2022-07-20 | 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, |
RCV001271638 | SCV001452934 | likely benign | Sjögren-Larsson syndrome | 2019-12-24 | no assertion criteria provided | clinical testing |