Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000222657 | SCV000272728 | uncertain significance | not specified | 2015-03-18 | criteria provided, single submitter | clinical testing | The p.Val19636Met variant in TTN has not been previously reported in individuals with cardiomyopathy, but has been identified in 2/65176 European chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; dbSNP r s376238023). Computational prediction tools and conservation analysis do not pro vide strong support for or against an impact to the protein, though 2 fish speci es have a methionine (Met) at this position which raises the possibility that th is change may be tolerated. In summary, the clinical significance of the p.Val19 636Met variant is uncertain. |
Athena Diagnostics Inc | RCV002472969 | SCV002770609 | uncertain significance | not provided | 2022-04-15 | criteria provided, single submitter | clinical testing |