Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Athena Diagnostics Inc | RCV000557865 | SCV000613928 | benign | not provided | 2018-10-31 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001089390 | SCV000654254 | benign | Nemaline myopathy 8 | 2023-12-22 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000516777 | SCV000717370 | likely benign | not specified | 2017-03-23 | 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. |
Prevention |
RCV003905302 | SCV004724654 | likely benign | KLHL40-related condition | 2019-08-01 | 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). |