ClinVar Miner

Submissions for variant NM_001378615.1(CC2D2A):c.4226T>C (p.Ile1409Thr)

dbSNP: rs863225176
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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 RCV000201617 SCV000256352 pathogenic Joubert syndrome 9 2015-02-23 criteria provided, single submitter research
Suma Genomics RCV000201617 SCV003762229 likely pathogenic Joubert syndrome 9 criteria provided, single submitter clinical testing

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