ClinVar Miner

Submissions for variant NM_177559.3(CSNK2A1):c.466G>C (p.Asp156His)

dbSNP: rs1568512728
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille RCV000757921 SCV002559195 pathogenic Okur-Chung neurodevelopmental syndrome criteria provided, single submitter clinical testing
OMIM RCV000757921 SCV000886434 pathogenic Okur-Chung neurodevelopmental syndrome 2019-02-19 no assertion criteria provided literature only
Human Genetics, University of Luebeck RCV000757921 SCV003834785 likely pathogenic Okur-Chung neurodevelopmental syndrome 2022-12-01 no assertion criteria provided clinical testing

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