Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000294314 | SCV000343096 | uncertain significance | not provided | 2016-06-19 | criteria provided, single submitter | clinical testing | |
Invitae | RCV002059250 | SCV002462265 | likely benign | Myofibrillar myopathy 3 | 2023-12-26 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000294314 | SCV002546775 | uncertain significance | not provided | 2022-06-28 | criteria provided, single submitter | clinical testing | In-silico analysis is inconclusive as to whether the variant alters gene splicing. In the absence of RNA/functional studies, the actual effect of this sequence change is unknown.; Has not been previously published as pathogenic or benign to our knowledge; This variant is associated with the following publications: (PMID: 30564623) |