ClinVar Miner

Submissions for variant NM_023073.3(CPLANE1):c.7400+1G>A (rs367543062)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000024219 SCV000192458 pathogenic Joubert syndrome 17 2013-05-31 criteria provided, single submitter clinical testing
Fulgent Genetics,Fulgent Genetics RCV000763545 SCV000894358 pathogenic Orofaciodigital syndrome 6; Joubert syndrome 17 2018-10-31 criteria provided, single submitter clinical testing
OMIM RCV000024219 SCV000045510 pathogenic Joubert syndrome 17 2012-04-06 no assertion criteria provided literature only
GeneReviews RCV000024219 SCV000058554 pathologic Joubert syndrome 17 2012-03-29 no assertion criteria provided curation Converted during submission to Pathogenic.

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