Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000219358 | SCV000269005 | benign | not specified | 2013-02-21 | criteria provided, single submitter | clinical testing | Glu286Glu in exon 4 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 1.8% (68/3724) of A frican American chromosomes from a broad population by the NHLBI Exome Sequencin g Project (http://evs.gs.washington.edu/EVS; dbSNP rs185273259). |
Prevention |
RCV000219358 | SCV000307589 | benign | not specified | criteria provided, single submitter | clinical testing | ||
Invitae | RCV000462495 | SCV000562010 | benign | Primary ciliary dyskinesia | 2024-01-31 | criteria provided, single submitter | clinical testing |