ClinVar Miner

Submissions for variant NM_014141.6(CNTNAP2):c.1777+2T>C

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory of Medical Genetics, University of Torino RCV002465410 SCV002760081 pathogenic Cortical dysplasia-focal epilepsy syndrome 2022-11-29 criteria provided, single submitter research
St. Anna Children's Cancer Research Institute (CCRI) RCV002465410 SCV003798976 likely pathogenic Cortical dysplasia-focal epilepsy syndrome 2023-02-08 no assertion criteria provided research ACMG classification: PVS1, PM2 and PM3.

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