ClinVar Miner

Submissions for variant NM_015354.3(NUP188):c.3515+1G>A

dbSNP: rs2131186551
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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 RCV001526559 SCV001736984 likely pathogenic Microcephaly criteria provided, single submitter clinical testing
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne RCV003151861 SCV003840254 likely pathogenic Sandestig-stefanova syndrome 2020-12-14 criteria provided, single submitter clinical testing This variant was observed in compound heterozygosity with variant c.1851_1852delinsG

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