Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000611614 | SCV000712166 | likely benign | not specified | 2016-06-07 | criteria provided, single submitter | clinical testing | p.Glu28Gly of CCDC40: This variant is not expected to have clinical significance due to a lack of conservation across species, including mammals. Of note, four mammals have a glycine (Gly) at this position despite high nearby amino acid con servation. In addition, computational prediction tools do not suggest a high lik elihood of impact to the protein. This variant was absent from large population studies. |