ClinVar Miner

Submissions for variant NM_001369.2(DNAH5):c.4510G>C (p.Gly1504Arg) (rs143567667)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000351920 SCV000453163 uncertain significance Primary ciliary dyskinesia 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000351920 SCV000624257 likely benign Primary ciliary dyskinesia 2017-07-19 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000222371 SCV000270148 likely benign not specified 2016-03-16 criteria provided, single submitter clinical testing p.Gly1504Arg in exon 28 of DNAH5: This variant is not expected to have clinical significance because it has been identified in 0.8% (86/10378) of African chromo somes by the Exome Aggregation Consortium (ExAC,; dbSNP rs143567667).
PreventionGenetics RCV000222371 SCV000307770 benign not specified criteria provided, single submitter clinical testing

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