ClinVar Miner

Submissions for variant NM_001369.2(DNAH5):c.3258T>C (p.Leu1086=) (rs10057007)

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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 RCV000150485 SCV000197671 benign not specified 2013-02-21 criteria provided, single submitter clinical testing Leu1086Leu in exon 21 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 31.7% (1398/4406) of African American chromosomes from a broad population by the NHLBI Exome Seque ncing Project (http://evs.gs.washington.edu/EVS; dbSNP rs10057007).
PreventionGenetics,PreventionGenetics RCV000150485 SCV000307743 benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV001094999 SCV000453240 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 RCV000333505 SCV001000366 benign Primary ciliary dyskinesia 2020-12-05 criteria provided, single submitter clinical testing
Pars Genome Lab RCV001094999 SCV001738696 benign Ciliary dyskinesia, primary, 3 2021-06-15 criteria provided, single submitter clinical testing
Natera, Inc. RCV000333505 SCV001458407 benign Primary ciliary dyskinesia 2020-09-16 no assertion criteria provided clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000150485 SCV001744888 benign not specified no assertion criteria provided clinical testing

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