ClinVar Miner

Submissions for variant NM_016648.4(LARP7):c.1669-1_1671del (rs778909076)

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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 RCV001526548 SCV001736973 pathogenic Epileptic encephalopathy criteria provided, single submitter clinical testing
Institute of Human Genetics,University of Wuerzburg RCV000678485 SCV000804548 likely pathogenic Intellectual disability no assertion criteria provided clinical testing

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