ClinVar Miner

Submissions for variant NM_001369.2(DNAH5):c.1672A>G (p.Thr558Ala) (rs1530498)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000150488 SCV000197674 benign not specified 2013-02-21 criteria provided, single submitter clinical testing Thr558Ala in exon 13 of DNAH5: This variant is not expected to have clinical sig nificance because it has been identified in 40.6% (3481/8584) of European Americ an chromosomes from a broad population by the NHLBI Exome Sequencing Project (ht tp://evs.gs.washington.edu/EVS; dbSNP rs1530498).
PreventionGenetics,PreventionGenetics RCV000150488 SCV000307719 benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV001095034 SCV000453267 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 benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Invitae RCV000394892 SCV001000008 benign Primary ciliary dyskinesia 2020-11-25 criteria provided, single submitter clinical testing
Pars Genome Lab RCV001095034 SCV001738702 benign Ciliary dyskinesia, primary, 3 2021-06-15 criteria provided, single submitter clinical testing
Natera, Inc. RCV000394892 SCV001462538 benign Primary ciliary dyskinesia 2020-09-16 no assertion criteria provided clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000150488 SCV001742356 benign not specified no assertion criteria provided clinical testing

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