Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV001404620 | SCV001606525 | likely benign | Immunodeficiency | 2024-01-05 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003958246 | SCV004768513 | likely benign | NFAT5-related disorder | 2019-04-25 | 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). |