Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000041077 | SCV000064768 | uncertain significance | not specified | 2012-02-10 | criteria provided, single submitter | clinical testing | The Gly3579Asp variant (TTN) has not been previously reported nor previously ide ntified by our laboratory. Another variant at this position (Gly3579Val) has bee n identified in 1/3014 African American chromosomes from a broad population by t he NHLBI Exome Sequencing Project (http://evs.gs.washington.edu/EVS). Computatio nal tools are limited or unavailable for this variant. In summary, the clinical significance of this variant cannot be determined at this time. |