ClinVar Miner

Submissions for variant NM_001369.2(DNAH5):c.13359A>G (p.Thr4453=) (rs3734111)

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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, Partners HealthCare Personalized Medicine RCV000155500 SCV000205198 benign not specified 2013-02-21 criteria provided, single submitter clinical testing Thr4453Thr in exon 77 of DNAH5: 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 45.3% (3894/8600) of European American chromosomes from a broad population by the NHLBI Exome Sequ encing Project (http://evs.gs.washington.edu/EVS; dbSNP rs3734111).
PreventionGenetics,PreventionGenetics RCV000155500 SCV000307706 benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV001095032 SCV000452933 benign Ciliary dyskinesia, primary, 3 2018-01-13 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Invitae RCV000284933 SCV001000002 benign Primary ciliary dyskinesia 2020-12-05 criteria provided, single submitter clinical testing
Pars Genome Lab RCV001095032 SCV001738549 benign Ciliary dyskinesia, primary, 3 2021-06-15 criteria provided, single submitter clinical testing
Natera, Inc. RCV000284933 SCV001462279 benign Primary ciliary dyskinesia 2020-09-16 no assertion criteria provided clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000155500 SCV001744851 benign not specified no assertion criteria provided clinical testing

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