ClinVar Miner

Submissions for variant NM_001134831.2(AHI1):c.2012C>T (p.Thr671Ile) (rs772989270)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
UW Hindbrain Malformation Research Program,University of Washington RCV000201635 SCV000256252 pathogenic Joubert syndrome 3 2015-02-23 criteria provided, single submitter research

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