ClinVar Miner

Submissions for variant NM_001277115.2(DNAH11):c.1916A>G (p.Gln639Arg)

gnomAD frequency: 0.14853  dbSNP: rs12670130
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Total submissions: 7
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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 RCV000150427 SCV000197608 benign not specified 2013-02-21 criteria provided, single submitter clinical testing Gln639Arg in exon 11 of DNAH11: This variant is not expected to have clinical si gnificance because it has been identified in 16.9% (1393/8222) of European Ameri can chromosomes from a broad population by the NHLBI Exome Sequencing Project (h ttp://evs.gs.washington.edu/EVS; dbSNP rs12670130).
PreventionGenetics, part of Exact Sciences RCV000150427 SCV000307476 benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000327387 SCV000468056 likely benign Primary ciliary dyskinesia 2016-06-14 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000327387 SCV001000368 benign Primary ciliary dyskinesia 2024-01-31 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001657845 SCV001875555 benign Primary ciliary dyskinesia 7 2021-07-30 criteria provided, single submitter clinical testing
GeneDx RCV001705971 SCV001887167 benign not provided 2019-01-21 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001705971 SCV005224589 likely benign not provided criteria provided, single submitter not provided

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