ClinVar Miner

Submissions for variant NM_001277115.2(DNAH11):c.858A>G (p.Glu286=)

gnomAD frequency: 0.00558  dbSNP: rs185273259
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Total submissions: 3
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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 RCV000219358 SCV000269005 benign not specified 2013-02-21 criteria provided, single submitter clinical testing Glu286Glu in exon 4 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 1.8% (68/3724) of A frican American chromosomes from a broad population by the NHLBI Exome Sequencin g Project (http://evs.gs.washington.edu/EVS; dbSNP rs185273259).
PreventionGenetics, part of Exact Sciences RCV000219358 SCV000307589 benign not specified criteria provided, single submitter clinical testing
Invitae RCV000462495 SCV000562010 benign Primary ciliary dyskinesia 2024-01-31 criteria provided, single submitter clinical testing

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