ClinVar Miner

Submissions for variant NM_001083962.2(TCF4):c.306_307del (p.Ser102fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Molecular Genetics Lab, CHRU Brest RCV003883361 SCV004697758 pathogenic Pitt-Hopkins syndrome; Corneal dystrophy, Fuchs endothelial, 3 criteria provided, single submitter clinical testing

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