ClinVar Miner

Submissions for variant NM_006593.4(TBR1):c.1118A>G (p.Gln373Arg) (rs1553510492)

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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 RCV000627105 SCV000747909 likely pathogenic Moderate global developmental delay 2017-03-16 criteria provided, single submitter clinical testing
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne RCV000761565 SCV000891708 pathogenic Seizures; Behavioral abnormality; Aplasia/Hypoplasia of the corpus callosum; Moderate global developmental delay 2016-10-13 criteria provided, single submitter clinical testing

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