Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Biesecker Lab/Clinical Genomics Section, |
RCV000172440 | SCV000051217 | uncertain significance | not provided | 2013-06-24 | criteria provided, single submitter | research | |
Laboratory for Molecular Medicine, |
RCV000222083 | SCV000272851 | uncertain significance | not specified | 2015-06-16 | criteria provided, single submitter | clinical testing | The p.Glu4600Ala variant in TTN has not been previously reported in individuals with cardiomyopathy, but has been identified in 1/8594 East Asian chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; dbSNP r s200760091). Computational prediction tools and conservation analysis are limite d or unavailable for this variant. In summary, the clinical significance of the p.Glu4600Ala variant is uncertain. |
Eurofins Ntd Llc |
RCV000172440 | SCV000703070 | uncertain significance | not provided | 2016-11-06 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000222083 | SCV000728903 | likely benign | not specified | 2018-03-12 | criteria provided, single submitter | clinical testing | This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease. |
Ce |
RCV000172440 | SCV004148168 | uncertain significance | not provided | 2022-03-01 | criteria provided, single submitter | clinical testing | TTN: PM2, BP4 |