ClinVar Miner

Submissions for variant NM_001369.2(DNAH5):c.6919G>A (p.Val2307Ile) (rs74604638)

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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 RCV000215053 SCV000269021 benign not specified 2013-02-21 criteria provided, single submitter clinical testing Val2307Ile in exon 42 of DNAH5: This variant is not expected to have clinical si gnificance because it has been identified in 2.5% (111/4406) of African American chromosomes from a broad population by the NHLBI Exome Sequencing Project (http ://evs.gs.washington.edu/EVS; dbSNP rs74604638).
PreventionGenetics,PreventionGenetics RCV000215053 SCV000307809 benign not specified criteria provided, single submitter clinical testing
Invitae RCV001086690 SCV000558019 benign Primary ciliary dyskinesia 2019-12-31 criteria provided, single submitter clinical testing
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000514710 SCV000610208 likely benign not provided 2017-08-28 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV001152115 SCV001313322 likely 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 likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.

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