Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000155496 | SCV000205194 | benign | not specified | 2013-02-21 | criteria provided, single submitter | clinical testing | 12508-12T>C in intron 76 of DNAH11: This variant is not expected to have clinica l significance because it has been identified in 5.7% (220/3868) of African Amer ican chromosomes from a broad population by the NHLBI Exome Sequencing Project ( http://evs.gs.washington.edu/EVS; dbSNP rs72658822). |
Prevention |
RCV000155496 | SCV000307448 | benign | not specified | criteria provided, single submitter | clinical testing | ||
Illumina Laboratory Services, |
RCV000267476 | SCV000468224 | likely benign | Primary ciliary dyskinesia | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001668316 | SCV001887814 | benign | not provided | 2019-02-24 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000267476 | SCV002379687 | benign | Primary ciliary dyskinesia | 2024-02-01 | criteria provided, single submitter | clinical testing |