ClinVar Miner

Submissions for variant NM_021222.3(PRUNE1):c.316G>A (p.Asp106Asn) (rs773618224)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine RCV000454333 SCV000537906 likely pathogenic Abnormality of brain morphology criteria provided, single submitter research There are 3 more families with similar phenotype
Institute of Human Genetics,Klinikum rechts der Isar RCV000490535 SCV000680349 pathogenic Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies 2017-12-11 criteria provided, single submitter clinical testing
Equipe Genetique des Anomalies du Developpement,Université de Bourgogne RCV000490535 SCV000966201 pathogenic Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies 2018-05-09 criteria provided, single submitter clinical testing Observed as a homozygote.
OMIM RCV000490535 SCV000577901 pathogenic Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies 2017-09-19 no assertion criteria provided literature only

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