ClinVar Miner

Submissions for variant NM_024809.5(TCTN2):c.76dup (p.Asp26fs)

dbSNP: rs863225222
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
UW Hindbrain Malformation Research Program, University of Washington RCV000201539 SCV000256477 pathogenic Familial aplasia of the vermis 2015-02-23 criteria provided, single submitter research
OMIM RCV000202326 SCV000257345 pathogenic Joubert syndrome 24 2011-05-13 no assertion criteria provided literature only

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