Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Prevention |
RCV000248750 | SCV000307610 | likely benign | not specified | criteria provided, single submitter | clinical testing | ||
Laboratory for Molecular Medicine, |
RCV000248750 | SCV000967211 | likely benign | not specified | 2013-02-21 | criteria provided, single submitter | clinical testing | Leu330Leu in exon 6 of DNAH11: This variant is not expected to have clinical sig nificance because it does not alter an amino acid residue and is not located wit hin the splice consensus sequence. It has been identified in 1/8168 European Ame rican chromosomes from a broad population by the NHLBI Exome Sequencing Project (http://evs.gs.washington.edu/EVS). |
Invitae | RCV001429513 | SCV001632228 | likely benign | Primary ciliary dyskinesia | 2023-12-13 | criteria provided, single submitter | clinical testing |