ClinVar Miner

Submissions for variant NM_001083962.2(TCF4):c.1957_1958del (p.Ser653fs)

dbSNP: rs1135401807
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Groupe Hospitalier Pitie Salpetriere, UF Genomique du Developpement, Assistance Publique Hopitaux de Paris RCV000496195 SCV000586773 pathogenic Pitt-Hopkins syndrome 2017-01-06 criteria provided, single submitter clinical testing severe Intellectual disability with cryptorchIntellectual disabilityism

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