ClinVar Miner

Submissions for variant NM_023073.3(CPLANE1):c.7957+288G>A (rs111294855)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000034938 SCV000192461 uncertain significance Joubert syndrome 17 2013-05-31 criteria provided, single submitter clinical testing
OMIM RCV000034938 SCV000045514 uncertain significance Joubert syndrome 17 2012-04-06 no assertion criteria provided literature only
GeneReviews RCV000034938 SCV000058551 pathologic Joubert syndrome 17 2012-03-29 no assertion criteria provided curation Converted during submission to Pathogenic.

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