ClinVar Miner

Submissions for variant NM_001369.2(DNAH5):c.9203A>G (p.Glu3068Gly) (rs141571121)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000732316 SCV000860251 uncertain significance not provided 2018-03-06 criteria provided, single submitter clinical testing
Invitae RCV001083277 SCV001004521 likely benign Primary ciliary dyskinesia 2020-11-13 criteria provided, single submitter clinical testing
Natera, Inc. RCV001083277 SCV001452466 uncertain significance Primary ciliary dyskinesia 2019-10-28 no assertion criteria provided clinical testing

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