Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000216863 | SCV000271005 | likely benign | not specified | 2016-03-02 | criteria provided, single submitter | clinical testing | p.Glu9267Glu in exon 116 of TTN: This variant is not expected to have clinical s ignificance because it does not alter an amino acid residue and is not located w ithin the splice consensus sequence. It has been identified in 1/8602 European c hromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute .org). |
Labcorp Genetics |
RCV001450697 | SCV001654311 | likely benign | Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J | 2024-11-03 | criteria provided, single submitter | clinical testing |