Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000594207 | SCV000706830 | uncertain significance | not provided | 2018-03-02 | criteria provided, single submitter | clinical testing | |
Invitae | RCV002062075 | SCV002494957 | likely benign | Hajdu-Cheney syndrome | 2023-11-24 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003952982 | SCV004769231 | likely benign | NOTCH2-related condition | 2019-07-30 | 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). |