Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000221419 | SCV000268994 | benign | not specified | 2013-02-21 | criteria provided, single submitter | clinical testing | Arg4096Arg in exon 75 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 9.3% (346/3726) o f African American chromosomes from a broad population by the NHLBI Exome Sequen cing Project (http://evs.gs.washington.edu/EVS; dbSNP rs72658820). |
Prevention |
RCV000221419 | SCV000307444 | benign | not specified | criteria provided, single submitter | clinical testing | ||
Illumina Laboratory Services, |
RCV000261241 | SCV000468218 | likely benign | Primary ciliary dyskinesia | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000261241 | SCV000561996 | benign | Primary ciliary dyskinesia | 2024-01-31 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001706223 | SCV001842224 | benign | not provided | 2021-05-05 | criteria provided, single submitter | clinical testing |