ClinVar Miner

Submissions for variant NM_020699.4(GATAD2B):c.598-1G>A

dbSNP: rs1674549557
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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 RCV001261979 SCV001439338 likely pathogenic Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome 2020-09-22 no assertion criteria provided clinical testing

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