Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Athena Diagnostics Inc | RCV001283506 | SCV000612249 | benign | not specified | 2019-10-31 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000517820 | SCV001052244 | benign | not provided | 2024-01-22 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV002490877 | SCV002802793 | likely benign | Autosomal recessive ataxia due to ubiquinone deficiency | 2021-10-13 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003962426 | SCV004780731 | likely benign | COQ8A-related condition | 2019-08-23 | 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). |