Total submissions: 8
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000150431 | SCV000197613 | benign | not specified | 2013-02-21 | criteria provided, single submitter | clinical testing | Thr1038Ala in exon 16 of DNAH11: This variant is not expected to have clinical s ignificance because it has been identified in 23.2% (920/3966) of African Americ an chromosomes from a broad population by the NHLBI Exome Sequencing Project (ht tp://evs.gs.washington.edu/EVS; dbSNP rs10224537). |
Preventiongenetics, |
RCV000150431 | SCV000307489 | benign | not specified | criteria provided, single submitter | clinical testing | ||
Illumina Laboratory Services, |
RCV000320059 | SCV000468079 | benign | Primary ciliary dyskinesia | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000320059 | SCV001000033 | benign | Primary ciliary dyskinesia | 2024-02-01 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV001657848 | SCV001875561 | benign | Primary ciliary dyskinesia 7 | 2021-07-30 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001709499 | SCV001937443 | benign | not provided | 2018-12-19 | criteria provided, single submitter | clinical testing | |
Diagnostic Laboratory, |
RCV000150431 | SCV001741021 | benign | not specified | no assertion criteria provided | clinical testing | ||
Clinical Genetics DNA and cytogenetics Diagnostics Lab, |
RCV000150431 | SCV001963747 | benign | not specified | no assertion criteria provided | clinical testing |