Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001402361 | SCV001604206 | likely benign | 3-methylglutaconic aciduria, type VIIB | 2022-03-12 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003955928 | SCV004775863 | likely benign | CLPB-related condition | 2020-01-24 | 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). |