Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000549524 | SCV000627075 | likely benign | Leigh syndrome | 2023-12-14 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001566842 | SCV001790421 | likely benign | not provided | 2019-10-17 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003925588 | SCV004741825 | likely benign | SURF1-related condition | 2019-05-08 | 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). |