ClinVar Miner

Submissions for variant NM_001378418.1(TCF20):c.3605dup (p.Pro1203fs)

dbSNP: rs1569146993
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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 RCV000770765 SCV000845781 pathogenic Pectus excavatum; Failure to thrive; Ptosis; Generalized hypotonia; Intellectual disability, moderate 2018-11-06 criteria provided, single submitter clinical testing Truncating + de novo (PVS + PS according to the ACMG criteria)

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