ClinVar Miner

Submissions for variant NM_003590.5(CUL3):c.1651C>T (p.Gln551Ter)

dbSNP: rs1553602498
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000624051 SCV000742604 pathogenic Inborn genetic diseases 2017-06-20 criteria provided, single submitter clinical testing
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille RCV002274077 SCV002558951 uncertain significance Neurodevelopmental delay criteria provided, single submitter clinical testing

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