Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000152472 | SCV000201589 | uncertain significance | not specified | 2013-05-01 | criteria provided, single submitter | clinical testing | The Gln3390Arg variant in TTN has not been reported in individuals with cardiomy opathy. Data from large population studies is insufficient to assess the frequen cy of this variant. Computational analyses are also limited for this variant. Ad ditional information is needed to fully assess the clinical significance of this variant. |
Gene |
RCV001550223 | SCV001770519 | likely benign | not provided | 2019-11-12 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003895047 | SCV004713366 | likely benign | TTN-related condition | 2023-02-14 | criteria provided, single submitter | clinical testing | This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). |