ClinVar Miner

Submissions for variant NM_001083962.2(TCF4):c.1249del (p.Asp417fs)

dbSNP: rs2145500473
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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 Medical Genetics and Applied Genomics, University Hospital Tübingen RCV001824476 SCV002073954 pathogenic Pitt-Hopkins syndrome 2022-02-09 criteria provided, single submitter clinical testing

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