Total submissions: 7
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000155015 | SCV000204698 | uncertain significance | not specified | 2014-04-16 | criteria provided, single submitter | clinical testing | The Thr799Met variant in TTN has not been reported in individuals with cardiomyo pathy, but has been identified in 1/8600 of European American chromosomes and 1/ 4406 of African American chromosomes by the NHLBI Exome Sequencing Project (http ://evs.gs.washington.edu/EVS/; dbSNP rs149061352). Computational prediction tool s and conservation analysis do not provide strong support for or against an impa ct to the protein. Additional information is needed to fully assess the clinica l significance of the Thr799Met variant. |
Labcorp Genetics |
RCV000550907 | SCV000642846 | uncertain significance | Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J | 2017-12-13 | criteria provided, single submitter | clinical testing | |
Eurofins Ntd Llc |
RCV000727539 | SCV000709577 | uncertain significance | not provided | 2017-06-27 | criteria provided, single submitter | clinical testing | |
Genetics and Genomics Program, |
RCV001293183 | SCV001434181 | uncertain significance | Primary dilated cardiomyopathy | criteria provided, single submitter | research | ||
Gene |
RCV000727539 | SCV001767850 | likely benign | not provided | 2018-06-21 | criteria provided, single submitter | clinical testing | This variant is associated with the following publications: (PMID: 17344846) |
Ambry Genetics | RCV002444639 | SCV002733340 | likely benign | Cardiovascular phenotype | 2020-03-06 | criteria provided, single submitter | clinical testing | This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, 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, |
RCV000727539 | SCV003827232 | uncertain significance | not provided | 2020-09-09 | criteria provided, single submitter | clinical testing |