ClinVar Miner

Submissions for variant NM_001320.7(CSNK2B):c.72+2T>G

dbSNP: rs2151182244
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen RCV002052288 SCV002318926 likely pathogenic Autosomal dominant non-syndromic intellectual disability; Poirier-Bienvenu neurodevelopmental syndrome 2022-03-29 criteria provided, single submitter clinical testing

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