ClinVar Miner

Submissions for variant NM_001308120.2(TOGARAM1):c.1084C>T (p.Gln362Ter)

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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 RCV001257978 SCV001442534 pathogenic Joubert syndrome 2020-05-26 criteria provided, single submitter research
University of Washington Center for Mendelian Genomics, University of Washington RCV001257978 SCV001434791 likely pathogenic Joubert syndrome no assertion criteria provided research
OMIM RCV001293023 SCV001481795 pathogenic Joubert syndrome 37 2021-02-22 no assertion criteria provided literature only

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