Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000434547 | SCV000531063 | likely benign | not specified | 2016-08-29 | 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 | RCV002522462 | SCV003459491 | likely benign | Hypertrophic cardiomyopathy 2; Dilated cardiomyopathy 1D; Cardiomyopathy, familial restrictive, 3 | 2022-09-19 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV003446025 | SCV004173833 | likely benign | Dilated cardiomyopathy 1D | 2023-04-11 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV003446026 | SCV004173834 | likely benign | Cardiomyopathy, familial restrictive, 3 | 2023-04-11 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV003446024 | SCV004173835 | likely benign | Hypertrophic cardiomyopathy 2 | 2023-04-11 | criteria provided, single submitter | clinical testing | |
Cohesion Phenomics | RCV003126729 | SCV003803645 | benign | Hypertrophic cardiomyopathy | 2022-09-27 | no assertion criteria provided | clinical testing |