ClinVar Miner

Submissions for variant NM_001369.3(DNAH5):c.5114+11T>C

gnomAD frequency: 0.37240  dbSNP: rs6554820
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Total submissions: 8
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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 RCV000150481 SCV000197667 benign not specified 2013-02-21 criteria provided, single submitter clinical testing 5114+11T>C in intron 31 of DNAH5: This variant is not expected to have clinical significance because it is not located within the conserved splice consensus seq uence. It has been identified in 41.7% (3583/8600) of European American chromoso mes from a broad population by the NHLBI Exome Sequencing Project (http://evs.gs .washington.edu/EVS; dbSNP rs6554820).
PreventionGenetics, part of Exact Sciences RCV000150481 SCV000307776 benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000282934 SCV000453139 benign Primary ciliary dyskinesia 3 2018-01-12 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.
Pars Genome Lab RCV000282934 SCV001738635 benign Primary ciliary dyskinesia 3 2021-06-15 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000282934 SCV001875595 benign Primary ciliary dyskinesia 3 2021-07-30 criteria provided, single submitter clinical testing
GeneDx RCV001689694 SCV001914171 benign not provided 2018-11-11 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002055964 SCV002401173 benign Primary ciliary dyskinesia 2024-02-01 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001689694 SCV005306041 benign not provided criteria provided, single submitter not provided

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