Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Biesecker Lab/Clinical Genomics Section, |
RCV000172425 | SCV000051210 | uncertain significance | not provided | 2013-06-24 | criteria provided, single submitter | research | |
Laboratory for Molecular Medicine, |
RCV000152435 | SCV000201501 | uncertain significance | not specified | 2014-08-13 | criteria provided, single submitter | clinical testing | The Ile5203Thr variant in TTN has not been previously reported in individuals wi th cardiomyopathy. This variant has been identified in 1/1323 chromosomes by the ClinSeq project (dbSNP rs200376564). Computational prediction tools and conserv ation analysis are limited or unavailable. In summary, the clinical significance of the Ile5203Thr variant is uncertain. |