ClinVar Miner

Submissions for variant NM_001369.2(DNAH5):c.6579+6A>G (rs141389162)

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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, Partners HealthCare Personalized Medicine RCV000222025 SCV000269020 benign not specified 2013-02-21 criteria provided, single submitter clinical testing 6579+6A>G in intron 39 of DNAH5: This variant is not expected to have clinical s ignificance because it has been identified in 2.5% (108/4406) of African America n chromosomes from a broad population by the NHLBI Exome Sequencing Project (htt p://evs.gs.washington.edu/EVS; dbSNP rs141389162).
PreventionGenetics,PreventionGenetics RCV000222025 SCV000307805 benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000664902 SCV000453093 likely 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 likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.
Invitae RCV000264043 SCV000558058 benign Primary ciliary dyskinesia 2020-12-05 criteria provided, single submitter clinical testing
Counsyl RCV000664902 SCV000788932 likely benign Ciliary dyskinesia, primary, 3 2017-03-06 criteria provided, single submitter clinical testing
GeneDx RCV001551447 SCV001771960 likely benign not provided 2021-01-19 criteria provided, single submitter clinical testing
Natera, Inc. RCV000264043 SCV001457351 benign Primary ciliary dyskinesia 2020-09-16 no assertion criteria provided clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV001551447 SCV001797351 likely benign not provided no assertion criteria provided clinical testing

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