Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001209747 | SCV001381197 | uncertain significance | Myofibrillar myopathy 6; Dilated cardiomyopathy 1HH | 2019-08-11 | criteria provided, single submitter | clinical testing | This sequence change affects the initiator methionine of the BAG3 mRNA. The next in-frame methionine is located at codon 9. This variant is not present in population databases (ExAC no frequency). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. This variant has not been reported in the literature in individuals with BAG3-related conditions. |
Ce |
RCV003393887 | SCV004134739 | uncertain significance | not provided | 2023-09-01 | criteria provided, single submitter | clinical testing | BAG3: PM2 |