Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000217601 | SCV000270138 | likely benign | not specified | 2016-03-16 | criteria provided, single submitter | clinical testing | p.Glu2883Lys in exon 52 of DNAH11: This variant is not expected to have clinical significance due to a lack of conservation across species, including mammals. O f note, >20 species, including the opposum, tasmanian devil, wallaby and platypu s have a lysine (Lys) at this position. In addition, computational prediction to ols do not suggest a high likelihood of impact to the protein. It has been ident ified in 1/66670 European chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; dbSNP rs752605468). |
Invitae | RCV003765367 | SCV004676831 | benign | Primary ciliary dyskinesia | 2024-01-24 | criteria provided, single submitter | clinical testing |