Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Biesecker Lab/Clinical Genomics Section, |
RCV000172387 | SCV000051281 | uncertain significance | not provided | 2013-06-24 | criteria provided, single submitter | research | |
Laboratory for Molecular Medicine, |
RCV000039993 | SCV000063684 | uncertain significance | not specified | 2012-07-02 | criteria provided, single submitter | clinical testing | Variant classified as Uncertain Significance - Favor Benign. The Ser6792Leu vari ant in TTN has been identified in 2/8252 European American chromosomes from a br oad population by the NHLBI Exome Sequencing Project (http://evs.gs.washington.e du/EVS/). Computational analyses (biochemical amino acid properties, conservatio n, AlignGVGD, PolyPhen2, and SIFT) suggest that the Ser6792Leu variant may not i mpact the protein, though this information is not predictive enough to rule out pathogenicity. Although this data supports that the Ser6792Leu variant may be be nign, additional studies are needed to fully assess its clinical significance. |
Gene |
RCV000172387 | SCV000238344 | likely benign | not provided | 2020-02-06 | criteria provided, single submitter | clinical testing | Missense variant in a gene in which most reported pathogenic variants are truncating/loss-of-function; In silico analysis supports that this missense variant does not alter protein structure/function; Reported in ClinVar (ClinVar Variant ID# 46723; Landrum et al., 2016); This variant is associated with the following publications: (PMID: 23861362) |
Genetic Services Laboratory, |
RCV000039993 | SCV000249245 | uncertain significance | not specified | 2015-01-20 | criteria provided, single submitter | clinical testing | |
Athena Diagnostics Inc | RCV000172387 | SCV000844650 | uncertain significance | not provided | 2018-05-17 | criteria provided, single submitter | clinical testing | |
Ce |
RCV000172387 | SCV004155261 | uncertain significance | not provided | 2023-10-01 | criteria provided, single submitter | clinical testing | TTN: PM2:Supporting, BP4 |