Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001489398 | SCV001693940 | likely benign | Pyruvate dehydrogenase E1-alpha deficiency | 2023-06-29 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003956083 | SCV004774327 | likely benign | PDHA1-related condition | 2019-04-11 | 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). |