Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000155483 | SCV000205179 | benign | not specified | 2013-02-21 | criteria provided, single submitter | clinical testing | Pro355Pro 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 21.6% (798/3686) of African American chromosomes from a broad population by the NHLBI Exome Sequenc ing Project (http://evs.gs.washington.edu/EVS; dbSNP rs4392792). |
Prevention |
RCV000155483 | SCV000307418 | benign | not specified | criteria provided, single submitter | clinical testing | ||
Illumina Laboratory Services, |
RCV000311529 | SCV000468047 | likely benign | Primary ciliary dyskinesia | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000311529 | SCV001000583 | benign | Primary ciliary dyskinesia | 2024-02-01 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001723726 | SCV001949805 | benign | not provided | 2018-11-10 | criteria provided, single submitter | clinical testing |