ClinVar Miner

Submissions for variant NM_001369.2(DNAH5):c.36T>G (p.His12Gln) (rs339445)

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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 RCV000155520 SCV000205219 benign not specified 2013-02-21 criteria provided, single submitter clinical testing His12Gln in exon 1 of DNAH5: This variant is not expected to have clinical signi ficance because it has been identified in 10.6% (469/4406) of African American c hromosomes from a broad population by the NHLBI Exome Sequencing Project (http:/ /evs.gs.washington.edu/EVS; dbSNP rs339445).
PreventionGenetics,PreventionGenetics RCV000155520 SCV000307749 benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV001095038 SCV000453294 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 RCV000303227 SCV001000253 benign Primary ciliary dyskinesia 2020-11-25 criteria provided, single submitter clinical testing
Pars Genome Lab RCV001095038 SCV001738566 benign Ciliary dyskinesia, primary, 3 2021-06-15 criteria provided, single submitter clinical testing
Natera, Inc. RCV000303227 SCV001462549 benign Primary ciliary dyskinesia 2020-09-16 no assertion criteria provided clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000155520 SCV001741596 benign not specified no assertion criteria provided clinical testing

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