Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000040994 | SCV000064685 | likely benign | not specified | 2011-09-27 | criteria provided, single submitter | clinical testing | 10361-6_10361-5delTT in intron 45 of TTN: This variant is not expected to have c linical significance because it is located outside the conserved +/- 1, 2 region of the splicing consensus sequence and as part of a polyT stretch. |
Gene |
RCV001642568 | SCV001855610 | benign | not provided | 2019-08-13 | criteria provided, single submitter | clinical testing | This variant is associated with the following publications: (PMID: 28798025) |