ClinVar Miner

Submissions for variant NM_015981.4(CAMK2A):c.415G>C (p.Glu139Gln)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratoire de Génétique Moléculaire, CHU Bordeaux RCV003149128 SCV003836677 likely pathogenic Intellectual disability, autosomal dominant 53 2020-08-07 criteria provided, single submitter clinical testing

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