ClinVar Miner

Submissions for variant NM_006593.4(TBR1):c.1652dup (p.Gln552fs)

dbSNP: rs1553511224
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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 RCV000627113 SCV000747917 likely pathogenic Severe global developmental delay 2017-03-16 criteria provided, single submitter clinical testing
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne RCV000761566 SCV000891709 likely pathogenic EEG abnormality; Gait disturbance; Abnormal facial shape; Absent speech; Inflexible adherence to routines; Generalized hypotonia; Cortical dysplasia; Severe global developmental delay; Hypoplastic anterior commissure; Hypoplastic hippocampus 2017-12-01 criteria provided, single submitter clinical testing

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