ClinVar Miner

Submissions for variant NM_001308120.2(TOGARAM1):c.3248C>A (p.Ser1083Ter)

dbSNP: rs1463041654
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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 RCV001258004 SCV001442536 pathogenic Familial aplasia of the vermis 2020-05-26 criteria provided, single submitter research
University of Washington Center for Mendelian Genomics, University of Washington RCV001258004 SCV001434818 likely pathogenic Familial aplasia of the vermis no assertion criteria provided research
OMIM RCV001293026 SCV001481798 pathogenic Joubert syndrome 37 2021-02-22 no assertion criteria provided literature only

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