Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Athena Diagnostics Inc | RCV000516724 | SCV000612262 | uncertain significance | not specified | 2016-12-31 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000915911 | SCV001061136 | likely benign | not provided | 2023-11-25 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003915445 | SCV004736919 | likely benign | COQ8A-related condition | 2019-05-20 | 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). |