Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000040453 | SCV000064144 | uncertain significance | not specified | 2012-11-07 | criteria provided, single submitter | clinical testing | The Ile18252Thr variant in TTN has not been reported in the literature nor previ ously identified by our laboratory. This variant has been identified in 1/8252 E uropean American chromosomes from a broad population by the NHLBI Exome Sequenci ng Project (http://evs.gs.washington.edu/EVS/). Computational analyses (biochemi cal amino acid properties, conservation, AlignGVGD, PolyPhen2, and SIFT) do not provide strong support for or against an impact to the protein. In summary, addi tional information is needed to fully assess the clinical significance of this v ariant. |
Eurofins Ntd Llc |
RCV000725889 | SCV000701185 | uncertain significance | not provided | 2017-06-29 | criteria provided, single submitter | clinical testing |