ClinVar Miner

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

gnomAD frequency: 0.57409  dbSNP: rs4722064
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham 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, part of Exact Sciences RCV000150452 SCV000307425 benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina 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-Nilou Lab RCV001657854 SCV001875574 benign Primary ciliary dyskinesia 7 2021-07-30 criteria provided, single submitter clinical testing
GeneDx RCV001705982 SCV001886035 benign not provided 2018-11-10 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
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000150452 SCV001966679 benign not specified no assertion criteria provided clinical testing

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