ClinVar Miner

Submissions for variant NM_001308120.2(TOGARAM1):c.2338+3A>G

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, University of Goettingen RCV002280923 SCV002569144 likely pathogenic Joubert syndrome 37 2022-01-21 criteria provided, single submitter clinical testing

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