Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000154894 | SCV000204576 | uncertain significance | not specified | 2013-12-26 | criteria provided, single submitter | clinical testing | The Val28227Ile in TTN has not been previously reported in individuals with card iomyopathy, but has been identified in 2/8338 European American chromosomes by t he NHLBI Exome Sequencing Project (http://evs.gs.washington.edu; dbSNP rs3690258 66). Computational analyses (biochemical amino acid properties, conservation, Al ignGVGD, PolyPhen2, and SIFT) do not provide strong support for or against an im pact to the protein. Additional information is needed to fully assess the clinic al significance of this variant. |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV000154894 | SCV003934121 | uncertain significance | not specified | 2023-05-22 | criteria provided, single submitter | clinical testing |