ClinVar Miner

Submissions for variant NM_023073.3(CPLANE1):c.2624C>T (p.Ser875Phe) (rs794727154)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000174951 SCV000226358 uncertain significance not provided 2014-12-18 criteria provided, single submitter clinical testing
Institute of Medical Genetics,University of Zurich RCV000611123 SCV000579465 pathogenic Joubert syndrome 17 2017-05-18 criteria provided, single submitter clinical testing

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