ClinVar Miner

Submissions for variant NM_001369.2(DNAH5):c.7388A>G (p.Gln2463Arg) (rs10078391)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare 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,PreventionGenetics RCV000150473 SCV000307815 benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV001095115 SCV000453084 benign Ciliary dyskinesia, primary, 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.
Invitae RCV000390072 SCV001000245 benign Primary ciliary dyskinesia 2020-12-05 criteria provided, single submitter clinical testing
Pars Genome Lab RCV001095115 SCV001738605 benign Ciliary dyskinesia, primary, 3 2021-06-15 criteria provided, single submitter clinical testing
Natera, Inc. RCV000390072 SCV001457348 benign Primary ciliary dyskinesia 2020-09-16 no assertion criteria provided clinical testing

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