Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV003641360 | SCV004561673 | likely benign | Mitochondrial complex V (ATP synthase) deficiency nuclear type 2 | 2022-11-23 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003956551 | SCV004776549 | likely benign | TMEM70-related disorder | 2020-02-24 | 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). |