ClinVar Miner

Submissions for variant NM_001277115.2(DNAH11):c.11122G>T (p.Val3708Leu) (rs4722064)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized 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,PreventionGenetics RCV000150452 SCV000307425 benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000366779 SCV000468200 benign Primary ciliary dyskinesia 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000366779 SCV001000042 benign Primary ciliary dyskinesia 2020-11-27 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000150452 SCV001740415 benign not specified no assertion criteria provided clinical testing

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