Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000605379 | SCV000713216 | uncertain significance | not specified | 2017-05-02 | criteria provided, single submitter | clinical testing | The p.Ile25641Val variant in TTN has not been previously reported in individuals with cardiomyopathy, but has been identified in 2/17174 of East Asian chromosom es by the Genome Aggregation Database (gnomAD, http://gnomad.broadinstitute.org/ ; dbSNP rs753472730). Computational prediction tools and conservation analysis d o not provide strong support for or against an impact to the protein. In summary , the clinical significance of the p.Ile25641Val variant is uncertain. |
Revvity Omics, |
RCV003139905 | SCV003819592 | uncertain significance | not provided | 2023-05-29 | criteria provided, single submitter | clinical testing |