Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000731043 | SCV000858813 | uncertain significance | not provided | 2017-12-21 | criteria provided, single submitter | clinical testing | |
Labcorp Genetics |
RCV000731043 | SCV004674831 | likely benign | not provided | 2024-01-04 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003955460 | SCV004767140 | likely benign | DGUOK-related disorder | 2022-07-28 | 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). |