ClinVar Miner

Submissions for variant NM_145239.3(PRRT2):c.674A>G (p.Glu225Gly) (rs1057518890)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Centre for Mendelian Genomics,University Medical Centre Ljubljana RCV000415382 SCV000492832 uncertain significance Global developmental delay; Hyperactivity; Seizures; Intellectual disability, profound 2014-02-11 criteria provided, single submitter clinical testing
Centre for Mendelian Genomics,University Medical Centre Ljubljana RCV001197506 SCV001368275 uncertain significance Infantile convulsions and choreoathetosis 2016-01-01 criteria provided, single submitter clinical testing This variant was classified as: Uncertain significance.

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