Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000079615 | SCV000111498 | benign | not specified | 2013-10-28 | criteria provided, single submitter | clinical testing | |
Illumina Laboratory Services, |
RCV000403909 | SCV000468029 | benign | Primary ciliary dyskinesia | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Laboratory for Molecular Medicine, |
RCV000079615 | SCV000711295 | benign | not specified | 2013-02-21 | criteria provided, single submitter | clinical testing | Glu34Val in exon 1 of DNAH11: This variant is not expected to have clinical sign ificance because it has been identified in 45.1% (3331/7390) of European America n chromosomes from a broad population by the NHLBI Exome Sequencing Project (htt p://evs.gs.washington.edu/EVS; dbSNP rs2285944). |
Gene |
RCV001610360 | SCV001834365 | benign | not provided | 2018-11-10 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV001664270 | SCV001875553 | benign | Primary ciliary dyskinesia 7 | 2021-07-30 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000403909 | SCV004682361 | benign | Primary ciliary dyskinesia | 2023-12-19 | criteria provided, single submitter | clinical testing |