Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000361676 | SCV001031155 | likely benign | Kleefstra syndrome 1 | 2024-01-06 | criteria provided, single submitter | clinical testing | |
Revvity Omics, |
RCV000361676 | SCV004237833 | likely benign | Kleefstra syndrome 1 | 2023-10-20 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003950297 | SCV004770761 | likely benign | EHMT1-related condition | 2022-05-02 | 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). |