ClinVar Miner

Submissions for variant NM_001082538.3(TCTN1):c.342-2A>G (rs730882221)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Developmental Genetics Unit,King Faisal Specialist Hospital & Research Centre RCV000162131 SCV000196416 likely pathogenic Global developmental delay; Typical Joubert syndrome MRI findings 2014-12-01 no assertion criteria provided research
UW Hindbrain Malformation Research Program,University of Washington RCV000201626 SCV000256472 pathogenic Joubert syndrome 13 2015-02-23 criteria provided, single submitter research

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