Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001476528 | SCV001680738 | likely benign | Propionic acidemia | 2022-10-10 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003956051 | SCV004767481 | likely benign | PCCB-related condition | 2022-05-26 | 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). |