Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000150455 | SCV000197641 | benign | not specified | 2013-02-21 | criteria provided, single submitter | clinical testing | 11202+13G>A in intron 68 of DNAH11: This variant is not expected to have clinica l significance because it is not located within the conserved splice consensus s equence. It has been identified in 32.3% (1157/3584) of African American chromos omes from a broad population by the NHLBI Exome Sequencing Project (http://evs.g s.washington.edu/EVS; dbSNP rs73279830). |
Prevention |
RCV000150455 | SCV000307427 | benign | not specified | criteria provided, single submitter | clinical testing | ||
Illumina Laboratory Services, |
RCV000332010 | SCV000468202 | likely benign | Primary ciliary dyskinesia | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001709500 | SCV001937958 | benign | not provided | 2018-12-31 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000332010 | SCV002408193 | benign | Primary ciliary dyskinesia | 2024-02-01 | criteria provided, single submitter | clinical testing |