Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000156466 | SCV000206185 | likely benign | not specified | 2014-04-04 | criteria provided, single submitter | clinical testing | Ile14472Val in exon 219 of TTN This variant is not expected to have clinical sig nificance due to a lack of evolutionary conservation. Of note, several mammalian , bird and fish species have a valine (Val) at this position despite high nearby amino acid conservation. |