ClinVar Miner

Submissions for variant NM_014141.6(CNTNAP2):c.117T>G (p.Leu39=)

gnomAD frequency: 0.00001  dbSNP: rs969515416
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV001817566 SCV002068873 uncertain significance not specified 2018-04-09 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002074293 SCV002340189 likely benign Cortical dysplasia-focal epilepsy syndrome 2024-05-27 criteria provided, single submitter clinical testing

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