Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001088255 | SCV000641391 | likely benign | Myopathy, proximal, and ophthalmoplegia | 2024-01-07 | criteria provided, single submitter | clinical testing | |
Eurofins Ntd Llc |
RCV000594531 | SCV000703938 | uncertain significance | not provided | 2016-12-28 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000594531 | SCV003805438 | uncertain significance | not provided | 2023-02-08 | criteria provided, single submitter | clinical testing | In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge |
Revvity Omics, |
RCV001088255 | SCV003809501 | uncertain significance | Myopathy, proximal, and ophthalmoplegia | 2019-08-02 | criteria provided, single submitter | clinical testing |