ClinVar Miner

Submissions for variant NM_016464.5(TMEM138):c.380C>T (p.Ala127Val) (rs387907133)

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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 RCV000024188 SCV000256481 pathogenic Joubert syndrome 16 2015-02-23 criteria provided, single submitter research
OMIM RCV000024188 SCV000045479 pathogenic Joubert syndrome 16 2012-02-24 no assertion criteria provided literature only

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