Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000638406 | SCV000759916 | likely benign | Kleefstra syndrome 1 | 2024-01-22 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001653964 | SCV001871690 | benign | not provided | 2019-06-25 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003953134 | SCV004770853 | likely benign | EHMT1-related condition | 2022-06-21 | 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). |