Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000644669 | SCV000766372 | likely benign | Koolen-de Vries syndrome | 2023-10-22 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003918044 | SCV004731853 | likely benign | KANSL1-related condition | 2024-02-22 | 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). |