Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000879510 | SCV001022546 | benign | Kleefstra syndrome 1 | 2023-12-23 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003895401 | SCV004724273 | likely benign | EHMT1-related condition | 2019-06-14 | 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). |