Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000940036 | SCV001085892 | likely benign | Leigh syndrome | 2023-12-20 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003970619 | SCV004785696 | likely benign | SURF1-related condition | 2020-04-24 | 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). |