ClinVar Miner

Submissions for variant NM_001277115.2(DNAH11):c.2835A>G (p.Gln945=)

gnomAD frequency: 0.07116  dbSNP: rs17144747
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000079617 SCV000111500 benign not specified 2015-03-05 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000079617 SCV000205181 benign not specified 2013-02-21 criteria provided, single submitter clinical testing Gln945Gln in exon 15 of DNAH11: This variant is not expected to have clinical si gnificance because it does not alter an amino acid residue and is not located wi thin the splice consensus sequence. It has been identified in 12.2% (449/3690) o f African American chromosomes from a broad population by the NHLBI Exome Sequen cing Project (http://evs.gs.washington.edu/EVS; dbSNP rs17144747).
PreventionGenetics, part of Exact Sciences RCV000079617 SCV000307484 benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000332826 SCV000468076 likely benign Primary ciliary dyskinesia 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000332826 SCV001000522 benign Primary ciliary dyskinesia 2024-02-01 criteria provided, single submitter clinical testing
GeneDx RCV001705732 SCV001868357 benign not provided 2018-12-31 criteria provided, single submitter clinical testing

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