Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000218208 | SCV000271114 | likely benign | not specified | 2015-10-22 | criteria provided, single submitter | clinical testing | p.Ile30167Val in exon 301 of TTN: This variant is not expected to have clinical significance due to a lack of conservation across species, including mammals. Of note, 4 mammals (mouse, elephant, cape elephant shrew and manatee) have a valin e (Val) at this position despite high nearby amino acid conservation. In additio n, computational prediction tools do not suggest a high likelihood of impact to the protein. It has been identified in 2/11534 of Latino chromosomes and 1/9804 African chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broad institute.org). |
Revvity Omics, |
RCV003137807 | SCV003819179 | likely benign | not provided | 2023-12-22 | criteria provided, single submitter | clinical testing |