ClinVar Miner

Submissions for variant NM_001044385.3(TMEM237):c.943+1G>T (rs748510210)

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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 RCV000024183 SCV000256488 pathogenic Joubert syndrome 14 2015-02-23 criteria provided, single submitter research
OMIM RCV000024183 SCV000045474 pathogenic Joubert syndrome 14 2011-12-09 no assertion criteria provided literature only

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