Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000611225 | SCV000729993 | likely benign | not specified | 2018-03-08 | 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 | RCV000872128 | SCV001013899 | benign | not provided | 2024-01-25 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV001807305 | SCV002055437 | benign | Agenesis of the corpus callosum with peripheral neuropathy | 2021-07-15 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003965288 | SCV004784680 | likely benign | SLC12A6-related condition | 2022-05-02 | 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). |