ClinVar Miner

Submissions for variant NM_001308120.2(TOGARAM1):c.3931C>T (p.Arg1311Cys)

dbSNP: rs759684383
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
UW Hindbrain Malformation Research Program, University of Washington RCV001257977 SCV001442538 pathogenic Familial aplasia of the vermis 2020-05-26 criteria provided, single submitter research
University of Washington Center for Mendelian Genomics, University of Washington RCV001257977 SCV001434790 likely pathogenic Familial aplasia of the vermis no assertion criteria provided research
OMIM RCV001293022 SCV001481794 pathogenic Joubert syndrome 37 2021-02-22 no assertion criteria provided literature only

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