ClinVar Miner

Submissions for variant NM_015981.4(CAMK2A):c.704C>T (p.Pro235Leu)

dbSNP: rs864309606
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia RCV000202726 SCV000258098 uncertain significance not specified 2015-06-08 criteria provided, single submitter clinical testing
Laboratory of Molecular Genetics (Pr. Bezieau's lab), CHU de Nantes RCV000577881 SCV000583483 pathogenic Intellectual disability 2017-07-03 no assertion criteria provided research
OMIM RCV000678212 SCV000804214 pathogenic Intellectual disability, autosomal dominant 53 2022-04-07 no assertion criteria provided literature only

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