ClinVar Miner

Submissions for variant NM_001369.2(DNAH5):c.6062-4G>A (rs143392650)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000393517 SCV000453107 uncertain significance Primary ciliary dyskinesia 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000393517 SCV000558018 benign Primary ciliary dyskinesia 2017-08-07 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000825667 SCV000967075 benign not specified 2013-02-21 criteria provided, single submitter clinical testing 6062-4G>A in intron 36 of DNAH5: This variant is not expected to have clinical s ignificance because it is not located within the conserved splice consensus sequ ence. It has been identified in 1.5% (67/4406) of African American chromosomes f rom a broad population by the NHLBI Exome Sequencing Project (http://evs.gs.wash ington.edu/EVS; dbSNP rs143392650).

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