Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000478966 | SCV000564545 | benign | not specified | 2015-04-16 | 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 | RCV002056729 | SCV002359579 | likely benign | Hypertrophic cardiomyopathy 11; Dilated cardiomyopathy 1R; Atrial septal defect 5 | 2023-11-22 | criteria provided, single submitter | clinical testing | |
ARUP Laboratories, |
RCV003114602 | SCV003799570 | likely benign | not provided | 2022-09-12 | criteria provided, single submitter | clinical testing |