ClinVar Miner

Submissions for variant NM_001369.2(DNAH5):c.5224T>C (p.Leu1742=) (rs35963491)

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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 RCV000217967 SCV000269016 benign not specified 2013-02-21 criteria provided, single submitter clinical testing Leu1742Leu in exon 32 of DNAH5: This variant is not expected to have clinical si gnificance because it does not alter an amino acid residue and is not located wi thin the splice consensus sequence. It has been identified in 2.4% (107/4406) of African American chromosomes from a broad population by the NHLBI Exome Sequenc ing Project (http://evs.gs.washington.edu/EVS; dbSNP rs35963491).
PreventionGenetics,PreventionGenetics RCV000217967 SCV000307785 benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV001094990 SCV000453128 likely 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 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 RCV000297531 SCV000558037 benign Primary ciliary dyskinesia 2020-12-05 criteria provided, single submitter clinical testing
Natera, Inc. RCV000297531 SCV001457365 benign Primary ciliary dyskinesia 2020-09-16 no assertion criteria provided clinical testing

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