Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000440007 | SCV000515718 | likely benign | not specified | 2017-11-14 | 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 | RCV000555751 | SCV000646908 | likely benign | Hypertrophic cardiomyopathy 2; Dilated cardiomyopathy 1D; Cardiomyopathy, familial restrictive, 3 | 2022-06-04 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV003449051 | SCV004181936 | likely benign | Dilated cardiomyopathy 1D | 2023-11-04 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV003449052 | SCV004181947 | likely benign | Cardiomyopathy, familial restrictive, 3 | 2023-11-04 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV003449050 | SCV004181958 | likely benign | Hypertrophic cardiomyopathy 2 | 2023-11-04 | criteria provided, single submitter | clinical testing |