ClinVar Miner

Submissions for variant NM_015215.4(CAMTA1):c.154T>A (p.Phe52Ile)

dbSNP: rs879255532
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center of Genomic medicine, Geneva, University Hospital of Geneva RCV000239413 SCV000297800 uncertain significance Cerebellar dysfunction with variable cognitive and behavioral abnormalities 2016-04-27 criteria provided, single submitter clinical testing This variant in CAMTA1 was found in combination with an another pathogenic variant in CTNNB1 a patient with severe mental retardation, ataxia, microcephaly and epilepsy

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