Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000599729 | SCV000732212 | likely benign | not specified | 2017-03-03 | 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 | RCV000866213 | SCV001007277 | likely benign | Progressive myoclonic epilepsy | 2023-11-24 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003965296 | SCV004780398 | likely benign | SCARB2-related condition | 2022-03-14 | 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). |