Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000606172 | SCV000732333 | likely benign | not specified | 2017-04-05 | 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 | RCV000873958 | SCV001016061 | likely benign | Hypertrophic cardiomyopathy | 2023-07-08 | criteria provided, single submitter | clinical testing | |
Color Diagnostics, |
RCV001190493 | SCV001357994 | likely benign | Cardiomyopathy | 2018-11-21 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003892390 | SCV004713591 | likely benign | MYBPC3-related condition | 2020-08-31 | 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). |