ClinVar Miner

Submissions for variant NM_001083962.2(TCF4):c.1067C>A (p.Ser356Ter)

dbSNP: rs1600504872
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center of Genomic medicine, Geneva, University Hospital of Geneva RCV000857224 SCV000999809 pathogenic Pitt-Hopkins syndrome 2019-01-18 criteria provided, single submitter clinical testing

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