Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000156237 | SCV000205953 | uncertain significance | not specified | 2014-01-22 | criteria provided, single submitter | clinical testing | The Pro25583Thr variant in TTN has not been previously reported in individuals w ith cardiomyopathy or in large population studies. Computational analyses (bioch emical amino acid properties, conservation, AlignGVGD, PolyPhen2, and SIFT) do n ot provide strong support for or against an impact to the protein. Additional in formation is needed to fully assess the clinical significance of the Pro25583Thr variant. |
Revvity Omics, |
RCV003137677 | SCV003823569 | uncertain significance | not provided | 2022-09-27 | criteria provided, single submitter | clinical testing |