ClinVar Miner

Submissions for variant NM_001369.2(DNAH5):c.3775G>A (p.Ala1259Thr) (rs112217391)

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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 RCV000724084 SCV000228131 uncertain significance not provided 2014-10-31 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000247012 SCV000307750 likely benign not specified criteria provided, single submitter clinical testing
Invitae RCV001089342 SCV001002153 likely benign Primary ciliary dyskinesia 2020-11-11 criteria provided, single submitter clinical testing
Natera, Inc. RCV001089342 SCV001458609 uncertain significance Primary ciliary dyskinesia 2020-01-17 no assertion criteria provided clinical testing

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