Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000917608 | SCV001062893 | likely benign | not provided | 2018-05-02 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000917608 | SCV001818438 | likely benign | not provided | 2019-12-30 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV002495529 | SCV002804139 | likely benign | Mitochondrial complex 4 deficiency, nuclear type 4 | 2022-03-25 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV004543446 | SCV004770158 | likely benign | SCO1-related disorder | 2019-12-19 | 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). |