ClinVar Miner

Submissions for variant NM_018139.2(DNAAF2):c.144C>A (p.Asn48Lys) (rs116185352)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000214391 SCV000332494 benign not specified 2015-07-09 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000384118 SCV000386874 uncertain significance Primary ciliary dyskinesia 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000384118 SCV000562401 benign Primary ciliary dyskinesia 2017-12-07 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000214391 SCV000268989 benign not specified 2013-02-21 criteria provided, single submitter clinical testing Asn48Lys in exon 1 of DNAAF2: This variant is not expected to have clinical sign ificance because it has been identified in 2.4% (88/3682) of African American ch romosomes from a broad population by the NHLBI Exome Sequencing Project (http:// evs.gs.washington.edu/EVS; dbSNP rs116185352).
PreventionGenetics RCV000214391 SCV000313188 benign not specified criteria provided, single submitter clinical testing

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