ClinVar Miner

Submissions for variant NM_001369.2(DNAH5):c.8757G>C (p.Glu2919Asp) (rs115776799)

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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 RCV000179101 SCV000231297 benign not specified 2014-07-22 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000168402 SCV000453068 uncertain significance Primary ciliary dyskinesia 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000168402 SCV000219096 benign Primary ciliary dyskinesia 2017-12-06 criteria provided, single submitter clinical testing
PreventionGenetics RCV000179101 SCV000307826 likely benign not specified criteria provided, single submitter clinical testing

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