ClinVar Miner

Submissions for variant NM_181426.2(CCDC39):c.1433A>G (p.Gln478Arg) (rs115545935)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000514742 SCV000610581 likely benign not provided 2017-05-30 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000216828 SCV000334719 benign not specified 2015-09-19 criteria provided, single submitter clinical testing
Invitae RCV000476417 SCV000561429 likely benign Primary ciliary dyskinesia 2017-12-19 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000216828 SCV000268838 benign not specified 2013-02-21 criteria provided, single submitter clinical testing Gln478Arg in exon 11 of CCDC39: This variant is not expected to have clinical si gnificance because it has been identified in 4.5% (8/178) of English and Scottis h chromosomes from a broad population by the 1000 Genomes Project (http://www.nc bi.nlm.nih.gov/projects/SNP; dbSNP rs115545935).
PreventionGenetics RCV000216828 SCV000316686 likely benign not specified criteria provided, single submitter clinical testing

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