ClinVar Miner

Submissions for variant NM_001320.7(CSNK2B):c.367+5del

dbSNP: rs1583610622
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001560828 SCV001783314 likely pathogenic not provided 2020-01-06 criteria provided, single submitter clinical testing Intronic +5 splice site variant in a gene for which loss-of-function is a known mechanism of disease, and both in silico predictors and evolutionary conservation support a deleterious effect; Not observed in large population cohorts (Lek et al., 2016); Has not been previously published as pathogenic or benign to our knowledge
GenomeConnect, ClinGen RCV000845042 SCV000986880 not provided Seizure; Intellectual disability; Developmental delay no assertion provided phenotyping only Variant interpretted as Likely pathogenic and reported on 01-09-2020 by Lab or GTR ID 26957. GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant.
Cologne Center for Genomics, Faculty of Medicine, University of Cologne RCV002221588 SCV002498745 pathogenic Poirier-Bienvenu neurodevelopmental syndrome 2022-04-11 no assertion criteria provided research

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