Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000217531 | SCV000270141 | likely benign | not specified | 2016-02-03 | criteria provided, single submitter | clinical testing | p.Asn4236Asn in c.12708T>C of DNAH11: This variant is not expected to have clini cal significance because it does not alter an amino acid residue and is not loca ted within the splice consensus sequence. It has been identified in 1/55474 Euro pean chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadins titute.org; dbSNP rs775042712). |
Invitae | RCV002057103 | SCV002371849 | likely benign | Primary ciliary dyskinesia | 2023-11-28 | criteria provided, single submitter | clinical testing |