Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000040666 | SCV000064357 | uncertain significance | not specified | 2012-10-31 | criteria provided, single submitter | clinical testing | The Ile24587Thr variant in TTN has not been reported in the literature nor previ ously identified by our laboratory or in large and broad European American and A frican American populations screened by the NHLBI Exome Sequencing Project (http ://evs.gs.washington.edu/EVS/). This data is insufficient to assess the clinica l significance of this variant. The affected amino acid is not well conserved in evolution, suggesting that a change would be tolerated but additional informati on is needed to fully assess the clinical significance of the Ile24587Thr varian t. |
Invitae | RCV000524889 | SCV000643746 | uncertain significance | Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J | 2017-10-25 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV000617267 | SCV000737306 | likely benign | Cardiovascular phenotype | 2020-03-20 | 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. |