ClinVar Miner

Submissions for variant NM_015215.4(CAMTA1):c.2473A>G (p.Ser825Gly)

dbSNP: rs765488241
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Centre for Mendelian Genomics, University Medical Centre Ljubljana RCV001196514 SCV001367122 uncertain significance Cerebellar dysfunction with variable cognitive and behavioral abnormalities 2020-01-29 criteria provided, single submitter clinical testing This variant was classified as: Uncertain significance. The available evidence on this variant's pathogenicity is insufficient or conflicting. The following ACMG criteria were applied in classifying this variant: PM2,PP3.

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