Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000155491 | SCV000205189 | benign | not specified | 2013-02-21 | criteria provided, single submitter | clinical testing | Leu3187Leu in exon 58 of DNAH11: This variant is not expected to have clinical s ignificance because it does not alter an amino acid residue and is not located w ithin the splice consensus sequence. It has been identified in 17.7% (695/3924) of African American chromosomes from a broad population by the NHLBI Exome Seque ncing Project (http://evs.gs.washington.edu/EVS; dbSNP rs6965750). |
Prevention |
RCV000155491 | SCV000307606 | benign | not specified | criteria provided, single submitter | clinical testing | ||
Illumina Laboratory Services, |
RCV000387329 | SCV000468183 | likely benign | Primary ciliary dyskinesia | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000387329 | SCV001000450 | benign | Primary ciliary dyskinesia | 2024-02-01 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001706037 | SCV001904400 | benign | not provided | 2018-11-10 | criteria provided, single submitter | clinical testing |