ClinVar Miner

Submissions for variant NM_001277115.2(DNAH11):c.1065A>G (p.Pro355=)

gnomAD frequency: 0.12205  dbSNP: rs4392792
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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, Mass General Brigham Personalized Medicine RCV000155483 SCV000205179 benign not specified 2013-02-21 criteria provided, single submitter clinical testing Pro355Pro in exon 6 of DNAH11: This variant is not expected to have clinical sig nificance because it does not alter an amino acid residue and is not located wit hin the splice consensus sequence. It has been identified in 21.6% (798/3686) of African American chromosomes from a broad population by the NHLBI Exome Sequenc ing Project (http://evs.gs.washington.edu/EVS; dbSNP rs4392792).
PreventionGenetics, part of Exact Sciences RCV000155483 SCV000307418 benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000311529 SCV000468047 likely benign Primary ciliary dyskinesia 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000311529 SCV001000583 benign Primary ciliary dyskinesia 2024-02-01 criteria provided, single submitter clinical testing
GeneDx RCV001723726 SCV001949805 benign not provided 2018-11-10 criteria provided, single submitter clinical testing

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