ClinVar Miner

Submissions for variant NM_001348323.3(TRIP12):c.4904G>A (p.Arg1635Gln)

dbSNP: rs2154255374
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetics and Prenatal Diagnosis Center, The First Affiliated Hospital of Zhengzhou University RCV001420158 SCV001622427 likely pathogenic Clark-Baraitser syndrome 2021-05-13 criteria provided, single submitter clinical testing

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