Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV000540014 | SCV000651422 | likely benign | Mitochondrial complex II deficiency, nuclear type 1; Paragangliomas 5 | 2023-08-10 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV004538054 | SCV004712377 | likely benign | SDHA-related disorder | 2022-09-02 | no assertion criteria provided | 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). |