ClinVar Miner

Submissions for variant NM_018139.2(DNAAF2):c.423C>T (p.Val141=) (rs373251065)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000358214 SCV000386868 uncertain significance Primary ciliary dyskinesia 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000358214 SCV000562393 likely benign Primary ciliary dyskinesia 2017-08-24 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000213301 SCV000270137 likely benign not specified 2015-05-11 criteria provided, single submitter clinical testing p.Val141Val in exon 1 of DNAAF2: This variant is not expected to have clinical s ignificance because it does not alter an amino acid residue and is not located w ithin the splice consensus sequence. It has been identified in 0.1% (72/51640) o f European chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.br oadinstitute.org; dbSNP rs373251065).

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