Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV001461220 | SCV001665108 | likely benign | Hyperprolinemia type 2 | 2020-08-19 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003908276 | SCV004725391 | likely benign | ALDH4A1-related disorder | 2019-06-18 | no assertion criteria provided | 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). |