Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV001416011 | SCV001618181 | likely benign | Cohen syndrome | 2023-03-12 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV004743467 | SCV005343109 | likely benign | VPS13B-related disorder | 2023-11-12 | 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). |