Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000156333 | SCV000206051 | likely benign | not specified | 2014-02-06 | criteria provided, single submitter | clinical testing | 180+13C>T in intron 1 of BAG3: This variant is not expected to have clinical sig nificance because it is not located within the splice consensus sequence. 180+1 3C>T in intron 1 of BAG3 (allele frequency = n/a) |
Gene |
RCV000156333 | SCV000724668 | likely benign | not specified | 2017-11-17 | 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 | RCV002056125 | SCV002494688 | likely benign | Myofibrillar myopathy 6; Dilated cardiomyopathy 1HH | 2024-01-03 | criteria provided, single submitter | clinical testing |