Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000040446 | SCV000064137 | uncertain significance | not specified | 2013-01-28 | criteria provided, single submitter | clinical testing | The Leu1806Phe variant in TTN has not been reported in the literature nor previo usly identified by our laboratory. This variant has also not been identified in large and broad European American and African American populations by the NHLBI Exome Sequencing Project (http://evs.gs.washington.edu/EVS), though it may be co mmon in other populations. Computational analyses (biochemical amino acid proper ties, conservation, AlignGVGD, PolyPhen2, and SIFT) do not provide strong suppor t for or against an impact to the protein. Additional information is needed to f ully assess the clinical significance of this variant. |
Gene |
RCV001797052 | SCV002038634 | uncertain significance | not provided | 2021-06-16 | criteria provided, single submitter | clinical testing | Has not been previously published as pathogenic or benign to our knowledge; Not observed at significant frequency in large population cohorts (Lek et al., 2016); Missense variant in a gene in which most reported pathogenic variants are truncating/loss-of-function; Reported in ClinVar but additional evidence is not available (ClinVar Variant ID# 47176; Landrum et al., 2016) |
Revvity Omics, |
RCV001797052 | SCV004237140 | uncertain significance | not provided | 2023-03-29 | criteria provided, single submitter | clinical testing |