Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000882095 | SCV001025315 | likely benign | Chédiak-Higashi syndrome | 2024-01-04 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003920564 | SCV004728109 | likely benign | LYST-related condition | 2020-06-12 | criteria provided, single submitter | 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). |