Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV001279772 | SCV001698713 | likely benign | Cohen syndrome | 2023-08-10 | criteria provided, single submitter | clinical testing | |
Natera, |
RCV001279772 | SCV001466893 | uncertain significance | Cohen syndrome | 2020-08-15 | no assertion criteria provided | clinical testing | |
Prevention |
RCV003908494 | SCV004719695 | likely benign | VPS13B-related disorder | 2021-07-12 | 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). |