Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000932553 | SCV001078237 | likely benign | Pyruvate carboxylase deficiency | 2024-02-01 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003970578 | SCV004780114 | likely benign | PC-related condition | 2019-03-27 | 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). |