Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV001441217 | SCV001644140 | likely benign | Cataract 18 | 2023-11-06 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003946153 | SCV004762967 | likely benign | FYCO1-related disorder | 2023-06-08 | 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). |