Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000892016 | SCV001035869 | benign | 3-methylglutaconic aciduria, type VIIB | 2024-01-29 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003940702 | SCV004756213 | likely benign | CLPB-related condition | 2022-12-20 | 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). |