ClinVar Miner

Submissions for variant NM_001369.2(DNAH5):c.2683G>A (p.Glu895Lys) (rs76229167)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000150487 SCV000197673 benign not specified 2013-02-21 criteria provided, single submitter clinical testing Glu895Lys in exon 18 of DNAH5: This variant is not expected to have clinical sig nificance because it has been identified in 4.6% (203/4406) of African American chromosomes from a broad population by the NHLBI Exome Sequencing Project (http: //evs.gs.washington.edu/EVS; dbSNP rs76229167).
PreventionGenetics,PreventionGenetics RCV000150487 SCV000307735 benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000665923 SCV000453248 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 RCV000286890 SCV000557991 benign Primary ciliary dyskinesia 2019-12-31 criteria provided, single submitter clinical testing
Counsyl RCV000665923 SCV000790131 likely benign Ciliary dyskinesia, primary, 3 2017-03-06 criteria provided, single submitter clinical testing

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