ClinVar Miner

Submissions for variant NM_006593.4(TBR1):c.713_719del (p.Ser238fs)

dbSNP: rs1553510280
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne RCV000627100 SCV000747904 likely pathogenic Autistic behavior; Moderate global developmental delay 2015-05-13 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Strasbourg University Hospital RCV001260801 SCV001437894 pathogenic Intellectual disability 2020-09-10 criteria provided, single submitter clinical testing

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