Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Biesecker Lab/Clinical Genomics Section, |
RCV000172436 | SCV000051320 | uncertain significance | not provided | 2013-06-24 | criteria provided, single submitter | research | |
Laboratory for Molecular Medicine, |
RCV000152444 | SCV000201522 | uncertain significance | not specified | 2014-03-14 | criteria provided, single submitter | clinical testing | The His4765Gln variant in TTN has not been previously reported in individuals wi th cardiomyopathy, but has been identified in 2/8594 European American chromosom es by the NHLBI Exome Sequencing Project (http://evs.gs.washington.edu/EVS/) and in 1/1320 of European chromosomes by the ClinSeq Project (dbSNP rs140366460). C omputational prediction tools and conservation analysis are limited or unavailab le for this variant. Additional information is needed to fully assess the clinic al significance of this variant. |