Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV000884084 | SCV001027439 | likely benign | Chédiak-Higashi syndrome | 2023-11-20 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV004746126 | SCV005345742 | likely benign | LYST-related disorder | 2024-03-18 | 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). |