ClinVar Miner

Submissions for variant NM_005650.3(TCF20):c.1810_1811del (p.Val604fs) (rs1569151204)

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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 RCV000770767 SCV000845779 pathogenic Autistic disorder of childhood onset; Intellectual disability, mild 2018-11-06 criteria provided, single submitter clinical testing de novo + truncating (PS + PVS according to the ACMG classification)

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