Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000155009 | SCV000204691 | uncertain significance | not specified | 2013-04-03 | criteria provided, single submitter | clinical testing | The Val2812Leu variant in TTN has not been reported in the literature nor previo usly identified by our laboratory. This variant has been identified in 1/4406 Af rican American chromosomes by the NHLBI Exome Sequencing Project (http://evs.gs. washington.edu/EVS/; dbSNP rs146636599). Computational analyses (biochemical ami no acid properties, conservation, AlignGVGD, PolyPhen2, and SIFT) do not provide strong support for or against an impact to the protein. Additional information is needed to fully assess the clinical significance of this variant. |
Eurofins Ntd Llc |
RCV000724308 | SCV000229842 | uncertain significance | not provided | 2014-12-09 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000724308 | SCV000238043 | likely benign | not provided | 2020-02-07 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV000241887 | SCV000320466 | likely benign | Cardiovascular phenotype | 2020-02-20 | criteria provided, single submitter | clinical testing | This alteration is classified as likely benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity. |
Revvity Omics, |
RCV000724308 | SCV003825565 | uncertain significance | not provided | 2023-04-27 | criteria provided, single submitter | clinical testing |