Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001413511 | SCV001615628 | likely benign | Pyruvate dehydrogenase E3 deficiency | 2023-11-14 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003895442 | SCV004716337 | likely benign | DLD-related disorder | 2021-03-09 | 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). |