Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000038743 | SCV000714851 | 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 | RCV001500459 | SCV001705247 | likely benign | Myofibrillar myopathy 4 | 2024-01-29 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV002490529 | SCV002795984 | likely benign | Dilated cardiomyopathy 1C; Myofibrillar myopathy 4 | 2021-07-26 | criteria provided, single submitter | clinical testing | |
Laboratory for Molecular Medicine, |
RCV000038743 | SCV000062421 | uncertain significance | not specified | 2009-04-28 | no assertion criteria provided | clinical testing |