Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000430368 | SCV000531426 | likely benign | not specified | 2017-10-19 | 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. |
Athena Diagnostics Inc | RCV000713518 | SCV000844139 | likely benign | not provided | 2018-05-23 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001086232 | SCV001007102 | likely benign | Early infantile epileptic encephalopathy with suppression bursts | 2024-01-04 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003959972 | SCV004773088 | likely benign | SPTAN1-related condition | 2020-11-12 | 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). |