ClinVar Miner

Submissions for variant NM_023073.3(CPLANE1):c.968C>T (p.Thr323Met) (rs373704405)

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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 RCV000180684 SCV000233163 uncertain significance not provided 2015-02-14 criteria provided, single submitter clinical testing
UW Hindbrain Malformation Research Program,University of Washington RCV000201580 SCV000256323 pathogenic Joubert syndrome 17 2015-02-23 criteria provided, single submitter research

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