Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV003511157 | SCV004280235 | likely benign | Inherited glutathione synthetase deficiency | 2024-01-25 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003946708 | SCV004763553 | likely benign | GSS-related disorder | 2019-03-22 | 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). |