ClinVar Miner

Submissions for variant NM_001220.5(CAMK2B):c.903+1G>A

dbSNP: rs1554385102
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV000585224 SCV000693236 pathogenic not provided 2018-11-01 criteria provided, single submitter clinical testing
Laboratory of Molecular Genetics (Pr. Bezieau's lab), CHU de Nantes RCV000577913 SCV000583493 likely pathogenic Intellectual disability 2017-07-03 no assertion criteria provided research

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