Total submissions: 7
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Biesecker Lab/Clinical Genomics Section, |
RCV000172195 | SCV000051314 | uncertain significance | not provided | 2013-06-24 | criteria provided, single submitter | research | |
Laboratory for Molecular Medicine, |
RCV000040800 | SCV000064491 | uncertain significance | not specified | 2012-12-06 | criteria provided, single submitter | clinical testing | The Val28555Leu variant in TTN has not been reported in the literature nor previ ously identified by our laboratory. This variant has been identified in 3/3720 A frican American chromosomes from a broad population by the NHLBI Exome Sequencin g Project (http://evs.gs.washington.edu/EVS/; dbSNP rs202096200). Computational analyses (biochemical amino acid properties, conservation, AlignGVGD, PolyPhen2, and SIFT) do not provide strong support for or against an impact to the protein . In summary, additional information is needed to fully assess its clinical sign ificance. |
Invitae | RCV001087420 | SCV000765014 | likely benign | Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J | 2024-01-15 | criteria provided, single submitter | clinical testing | |
Eurofins Ntd Llc |
RCV000172195 | SCV000855084 | uncertain significance | not provided | 2017-09-15 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000172195 | SCV000970831 | likely benign | not provided | 2021-03-02 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002371845 | SCV002667727 | likely benign | Cardiovascular phenotype | 2020-02-26 | 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, |
RCV000172195 | SCV003822272 | uncertain significance | not provided | 2019-11-17 | criteria provided, single submitter | clinical testing |