Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV001485196 | SCV001689626 | likely benign | Cohen syndrome | 2023-08-10 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV004743524 | SCV005355355 | likely benign | VPS13B-related disorder | 2024-03-27 | 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). |