ClinVar Miner

Submissions for variant NM_006593.4(TBR1):c.1653_1654del (p.Gln552fs)

dbSNP: rs1553511226
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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 RCV000627114 SCV000747918 likely pathogenic Autistic behavior; Severe global developmental delay 2017-04-19 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Strasbourg University Hospital RCV001260826 SCV001437922 likely pathogenic Intellectual disability 2020-09-10 criteria provided, single submitter clinical testing

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