Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000040415 | SCV000064106 | uncertain significance | not specified | 2012-07-03 | criteria provided, single submitter | clinical testing | The Asp17130Tyr variant in TTN has not been reported in the literature nor previ ously identified by our laboratory. In addition, this variant has not been ident ified in large and broad populations by the NHLBI Exome Sequencing Project (http ://evs.gs.washington.edu/EVS). Computational analyses (biochemical amino acid pr operties, conservation, AlignGVGD, PolyPhen2, and SIFT) do not provide strong su pport for or against an impact to the protein. Additional information is needed to fully assess the clinical significance of the Asp17130Tyr variant. |
Ce |
RCV000997441 | SCV001152846 | uncertain significance | not provided | 2017-06-01 | criteria provided, single submitter | clinical testing |