ClinVar Miner

Submissions for variant NM_001369.3(DNAH5):c.8449-12T>C

gnomAD frequency: 0.02531  dbSNP: rs111313933
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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 RCV000155506 SCV000205205 benign not specified 2013-02-21 criteria provided, single submitter clinical testing 8449-12T>C in intron 50 of DNAH5: This variant is not expected to have clinical significance because it has been identified in 3.3% (283/8600) of European Ameri can chromosomes from a broad population by the NHLBI Exome Sequencing Project (h ttp://evs.gs.washington.edu/EVS; dbSNP rs111313933).
PreventionGenetics, part of Exact Sciences RCV000155506 SCV000307824 benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000665895 SCV000453073 benign Primary ciliary dyskinesia 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.
Counsyl RCV000665895 SCV000790091 benign Primary ciliary dyskinesia 3 2017-03-06 criteria provided, single submitter clinical testing
Pars Genome Lab RCV000665895 SCV001738603 benign Primary ciliary dyskinesia 3 2021-06-15 criteria provided, single submitter clinical testing
GeneDx RCV001636698 SCV001851263 benign not provided 2019-05-06 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002056084 SCV002443819 benign Primary ciliary dyskinesia 2024-01-31 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001636698 SCV005306010 benign not provided criteria provided, single submitter not provided

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