Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Genetic Services Laboratory, |
RCV000194609 | SCV000248291 | uncertain significance | not specified | 2014-06-05 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001400508 | SCV001602312 | likely benign | Pitt-Hopkins-like syndrome 2 | 2024-01-21 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003927798 | SCV004743640 | likely benign | NRXN1-related condition | 2019-03-27 | 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). |