ClinVar Miner

Submissions for variant NM_006593.4(TBR1):c.1105_1113del (p.Val369_Ala371del)

dbSNP: rs1684181938
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Total submissions: 1
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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 RCV001200913 SCV001371834 likely pathogenic Autistic behavior; Aggressive behavior; Severe global developmental delay; Limb myoclonus 2018-06-16 criteria provided, single submitter clinical testing

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