Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000179847 | SCV000232162 | uncertain significance | not provided | 2014-07-15 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000648314 | SCV000770128 | likely benign | Intellectual disability, autosomal dominant 20 | 2023-12-30 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003895203 | SCV004717713 | likely benign | MEF2C-related condition | 2023-04-20 | 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). |