Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000828041 | SCV000969717 | likely benign | not provided | 2018-06-01 | criteria provided, single submitter | clinical testing | This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease. |
Invitae | RCV001424759 | SCV001627360 | likely benign | Pitt-Hopkins-like syndrome 2 | 2023-05-04 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003965616 | SCV004778306 | likely benign | NRXN1-related condition | 2022-07-27 | 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). |