ClinVar Miner

Submissions for variant NM_014141.6(CNTNAP2):c.2773+9T>C

gnomAD frequency: 0.00001  dbSNP: rs1433023482
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001614123 SCV001837491 benign not provided 2015-08-12 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002072369 SCV002396679 likely benign Cortical dysplasia-focal epilepsy syndrome 2021-11-19 criteria provided, single submitter clinical testing

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