Total submissions: 8
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000150452 | SCV000197638 | benign | not specified | 2013-02-21 | criteria provided, single submitter | clinical testing | Val3708Leu in exon 68 of DNAH11: This variant is not expected to have clinical s ignificance because it has been identified in 42.1% (1548/3680) of African Ameri can chromosomes from a broad population by the NHLBI Exome Sequencing Project (h ttp://evs.gs.washington.edu/EVS; dbSNP rs4722064). |
Preventiongenetics, |
RCV000150452 | SCV000307425 | benign | not specified | criteria provided, single submitter | clinical testing | ||
Illumina Laboratory Services, |
RCV000366779 | SCV000468200 | benign | Primary ciliary dyskinesia | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000366779 | SCV001000042 | benign | Primary ciliary dyskinesia | 2024-02-01 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV001657854 | SCV001875574 | benign | Primary ciliary dyskinesia 7 | 2021-07-30 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001705982 | SCV001886035 | benign | not provided | 2018-11-10 | criteria provided, single submitter | clinical testing | |
Diagnostic Laboratory, |
RCV000150452 | SCV001740415 | benign | not specified | no assertion criteria provided | clinical testing | ||
Clinical Genetics DNA and cytogenetics Diagnostics Lab, |
RCV000150452 | SCV001966679 | benign | not specified | no assertion criteria provided | clinical testing |