ClinVar Miner

Submissions for variant NM_001277115.2(DNAH11):c.3112A>G (p.Thr1038Ala)

gnomAD frequency: 0.79851  dbSNP: rs10224537
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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 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, part of Exact Sciences RCV000150431 SCV000307489 benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina 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-Nilou Lab RCV001657848 SCV001875561 benign Primary ciliary dyskinesia 7 2021-07-30 criteria provided, single submitter clinical testing
GeneDx RCV001709499 SCV001937443 benign not provided 2018-12-19 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000150431 SCV001741021 benign not specified no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000150431 SCV001963747 benign not specified no assertion criteria provided clinical testing

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