Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000154965 | SCV000204647 | uncertain significance | not specified | 2015-03-12 | criteria provided, single submitter | clinical testing | The p.Ile9042Thr variant in TTN has been identified by our laboratory in 1 Cauca sian adult with DCM. It has also been identified in 4/12744 European chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; dbSN P rs369094355). Computational prediction tools and conservation analysis do not provide strong support for or against an impact to the protein. In summary, the clinical significance of the p.Ile9042Thr variant is uncertain. |
Eurofins Ntd Llc |
RCV000724537 | SCV000225453 | uncertain significance | not provided | 2015-02-16 | criteria provided, single submitter | clinical testing | |
Genetic Services Laboratory, |
RCV000154965 | SCV000597700 | uncertain significance | not specified | 2016-10-11 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000643366 | SCV000765053 | uncertain significance | Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J | 2017-11-06 | criteria provided, single submitter | clinical testing | |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV000154965 | SCV003934133 | uncertain significance | not specified | 2023-05-22 | criteria provided, single submitter | clinical testing |