Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000155983 | SCV000205695 | uncertain significance | not specified | 2013-08-14 | criteria provided, single submitter | clinical testing | The Phe3630Leu variant in TTN has not been reported in individuals with cardiomy opathy or in large population studies. Computational analyses are limited or una vailable for this variant. Additional information is needed to fully assess the clinical significance of this variant. |