ClinVar Miner

Submissions for variant NM_001369.3(DNAH5):c.7388A>G (p.Gln2463Arg)

gnomAD frequency: 0.20605  dbSNP: rs10078391
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Total submissions: 10
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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 RCV000150473 SCV000197659 benign not specified 2013-02-21 criteria provided, single submitter clinical testing Gln2463Arg in exon 44 of DNAH5: This variant is not expected to have clinical si gnificance because it has been identified in 20.5% (1761/8600) of European Ameri can chromosomes from a broad population by the NHLBI Exome Sequencing Project (h ttp://evs.gs.washington.edu/EVS; dbSNP rs10078391).
PreventionGenetics, part of Exact Sciences RCV000150473 SCV000307815 benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001095115 SCV000453084 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV000390072 SCV001000245 benign Primary ciliary dyskinesia 2024-02-01 criteria provided, single submitter clinical testing
Pars Genome Lab RCV001095115 SCV001738605 benign Primary ciliary dyskinesia 3 2021-06-15 criteria provided, single submitter clinical testing
GeneDx RCV001725129 SCV001960251 benign not provided 2018-11-10 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 27989800)
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001095115 SCV002049150 benign Primary ciliary dyskinesia 3 2023-11-29 criteria provided, single submitter clinical testing
Ambry Genetics RCV000390072 SCV002672401 benign Primary ciliary dyskinesia 2014-12-10 criteria provided, single submitter clinical testing This alteration is classified as benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Breakthrough Genomics, Breakthrough Genomics RCV001725129 SCV005306016 benign not provided criteria provided, single submitter not provided
Natera, Inc. RCV000390072 SCV001457348 benign Primary ciliary dyskinesia 2020-09-16 no assertion criteria provided clinical testing

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