Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000152259 | SCV000201091 | uncertain significance | not specified | 2013-04-12 | criteria provided, single submitter | clinical testing | The Pro18699Leu variant in TTN has not been reported in individuals with cardiom yopathy, but has been identified in 3/3726 African American chromosomes by the N HLBI Exome Sequencing Project (http://evs.gs.washington.edu/EVS/; dbSNP rs200365 508). Computational analyses (biochemical amino acid properties, conservation, A lignGVGD, PolyPhen2, and SIFT) suggest that this variant may impact the protein, though this information is not predictive enough to determine pathogenicity. In summary, additional information is needed to fully assess the clinical signific ance of this variant. |
Eurofins Ntd Llc |
RCV000734115 | SCV000862231 | uncertain significance | not provided | 2018-07-03 | criteria provided, single submitter | clinical testing |