ClinVar Miner

Submissions for variant NM_145239.3(PRRT2):c.46G>T (p.Glu16Ter)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Key Laboratory of Neurobehavioral Science for Children, Children's Hospital Affiliated of Zhengzhou University RCV003232633 SCV002760169 pathogenic Seizures, benign familial infantile, 2 no assertion criteria provided research

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