Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000040988 | SCV000064679 | uncertain significance | not specified | 2012-08-14 | criteria provided, single submitter | clinical testing | The Arg33194Gln variant in TTN has not been reported in the literature nor previ ously identified by our laboratory. Computational analyses (biochemical amino ac id properties, conservation, AlignGVGD, PolyPhen2, and SIFT) do not provide stro ng support for or against an impact to the protein. Additional information is ne eded to fully assess the clinical significance of the Arg33194Gln variant. |
Eurofins Ntd Llc |
RCV000729943 | SCV000857646 | uncertain significance | not provided | 2017-10-24 | criteria provided, single submitter | clinical testing |