Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000152373 | SCV000201308 | likely benign | not specified | 2014-03-14 | criteria provided, single submitter | clinical testing | Arg9741Gln in exon 132 of TTN: This variant is not expected to have clinical sig nificance due to a lack of conservation across species, including mammals. Of no te, multiple mammals have a glutamine (Gln) at this position despite high nearby amino acid conservation. In addition, computational prediction tools do not sug gest a high likelihood of impact to the protein. |
Revvity Omics, |
RCV003137658 | SCV003824835 | uncertain significance | not provided | 2021-12-16 | criteria provided, single submitter | clinical testing |