ClinVar Miner

Submissions for variant NM_001220.5(CAMK2B):c.903G>A (p.Lys301=)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Undiagnosed Diseases Network, NIH RCV003493379 SCV004242184 uncertain significance Intellectual disability, autosomal dominant 54 2023-09-05 no assertion criteria provided clinical testing While variant is synonymous, it affects the last nucleotide of the exon. Variants affecting neighboring nucleotides have been reported in patients with CAMK2B-related disorders; splicing was affected in those patients.

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