Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV001704509 | SCV000532823 | likely benign | not provided | 2020-06-05 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000652717 | SCV000774588 | likely benign | Combined oxidative phosphorylation defect type 27 | 2024-01-07 | criteria provided, single submitter | clinical testing | |
Ce |
RCV001704509 | SCV004135664 | likely benign | not provided | 2023-02-01 | criteria provided, single submitter | clinical testing | CARS2: BP4, BP7 |
Prevention |
RCV003902607 | SCV004718279 | likely benign | CARS2-related disorder | 2019-12-09 | 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). |