Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000082243 | SCV000114192 | uncertain significance | not provided | 2013-05-29 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000348835 | SCV001074450 | likely benign | Kleefstra syndrome 1 | 2023-12-27 | criteria provided, single submitter | clinical testing | |
Ce |
RCV000082243 | SCV004164058 | likely benign | not provided | 2023-01-01 | criteria provided, single submitter | clinical testing | EHMT1: BP4, BS1 |
Prevention |
RCV003974987 | SCV004792950 | likely benign | EHMT1-related condition | 2022-04-04 | 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). |