ClinVar Miner

Submissions for variant NM_001348323.3(TRIP12):c.2065C>T (p.Gln689Ter)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Medical Genetics Center, Maternal and Child Health Hospital of Hubei Province RCV003219196 SCV003915616 pathogenic Clark-Baraitser syndrome 2021-02-26 criteria provided, single submitter clinical testing

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