ClinVar Miner

Submissions for variant NM_005650.3(TCF20):c.2594C>G (p.Ser865Ter) (rs1569149539)

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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 RCV000770766 SCV000845780 pathogenic Autistic disorder of childhood onset; Intellectual disability, mild; Myoclonus 2018-11-06 criteria provided, single submitter clinical testing Truncating + de novo (PVS + PS according to the ACMG classification)

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