ClinVar Miner

Submissions for variant NM_018139.2(DNAAF2):c.1953A>G (p.Pro651=) (rs34352773)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000724055 SCV000227471 uncertain significance not provided 2014-07-29 criteria provided, single submitter clinical testing
Invitae RCV000204797 SCV000261058 benign Primary ciliary dyskinesia 2017-12-29 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000242612 SCV000711294 benign not specified 2013-02-21 criteria provided, single submitter clinical testing Pro651Pro in exon 2 of DNAAF2: This variant is not expected to have clinical sig nificance because it does not alter an amino acid residue and is not located wit hin the splice consensus sequence. It has been identified in 0.3% (27/8598) of E uropean American chromosomes from a broad population by the NHLBI Exome Sequenci ng Project (http://evs.gs.washington.edu/EVS; dbSNP rs34352773).
PreventionGenetics RCV000242612 SCV000313196 benign not specified criteria provided, single submitter clinical testing

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