Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000156866 | SCV000206587 | likely benign | not specified | 2014-11-05 | criteria provided, single submitter | clinical testing | p.Arg2146His in exon 38 of DNAH11: This variant is not expected to have clinical significance due to a lack of conservation across species, including mammals. O f note, >10 mammals carry a histidine (His) at this position despite high nearby amino acid conservation. |
Preventiongenetics, |
RCV000156866 | SCV000307554 | benign | not specified | criteria provided, single submitter | clinical testing | ||
Gene |
RCV000156866 | SCV000517088 | likely benign | not specified | 2015-05-29 | criteria provided, single submitter | clinical testing | This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease. |
Invitae | RCV001392556 | SCV001594200 | likely benign | Primary ciliary dyskinesia | 2018-12-12 | criteria provided, single submitter | clinical testing |