Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000155486 | SCV000205183 | likely benign | not specified | 2013-02-21 | criteria provided, single submitter | clinical testing | 4254+13G>A in intron 23 of DNAH11: This variant is not expected to have clinical significance because it is not located within the conserved splice consensus se quence. It has been identified in 0.1% (8/8288) of European American chromosomes from a broad population by the NHLBI Exome Sequencing Project (http://evs.gs.wa shington.edu/EVS). |
Prevention |
RCV000155486 | SCV000307507 | likely benign | not specified | criteria provided, single submitter | clinical testing | ||
Invitae | RCV002516132 | SCV003483571 | likely benign | Primary ciliary dyskinesia | 2024-01-10 | criteria provided, single submitter | clinical testing |