ClinVar Miner

Submissions for variant NM_014141.6(CNTNAP2):c.2151C>A (p.Tyr717Ter)

dbSNP: rs2116752243
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
St. Anna Children's Cancer Research Institute (CCRI) RCV001788509 SCV003798980 pathogenic Cortical dysplasia-focal epilepsy syndrome 2023-02-08 criteria provided, single submitter research ACMG classification of pathogenicity: PVS1, PM2, PM3 and supporting
Pediatric Genetics Clinic, Sheba Medical Center RCV001788509 SCV001712166 pathogenic Cortical dysplasia-focal epilepsy syndrome 2021-05-13 no assertion criteria provided clinical testing

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