Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000155833 | SCV000205544 | uncertain significance | not specified | 2014-05-01 | criteria provided, single submitter | clinical testing | The Asp12216Asn variant in TTN has not been previously reported in individuals w ith cardiomyopathy, but has been identified in 2/8360 European American chromoso mes by the NHLBI Exome Sequencing Project (http://evs.gs.washington.edu/EVS/). C omputational prediction tools and conservation analysis do not provide strong su pport for or against an impact to the protein. Additional information is needed to fully assess the clinical significance of the Asp12216Asn variant. |
Eurofins Ntd Llc |
RCV000725102 | SCV000334018 | uncertain significance | not provided | 2018-06-20 | criteria provided, single submitter | clinical testing | |
CHEO Genetics Diagnostic Laboratory, |
RCV003149950 | SCV003838623 | uncertain significance | Cardiomyopathy | 2021-09-01 | criteria provided, single submitter | clinical testing |