Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000838214 | SCV000980078 | 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. |
Labcorp Genetics |
RCV001079920 | SCV001107837 | likely benign | Episodic ataxia type 2; Developmental and epileptic encephalopathy, 42 | 2024-12-02 | criteria provided, single submitter | clinical testing | |
Athena Diagnostics | RCV001288843 | SCV001476229 | benign | not specified | 2020-05-22 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003985433 | SCV004760160 | likely benign | CACNA1A-related disorder | 2023-08-10 | no assertion criteria provided | 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). |