ClinVar Miner

Submissions for variant NM_001083962.2(TCF4):c.677del (p.Pro226fs)

dbSNP: rs2146147977
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein RCV001528123 SCV001739330 pathogenic Pitt-Hopkins syndrome 2021-03-04 no assertion criteria provided clinical testing

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