ClinVar Miner

Submissions for variant NM_014141.6(CNTNAP2):c.209-12G>C

gnomAD frequency: 0.00003  dbSNP: rs373492025
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001666184 SCV001883506 likely benign not provided 2020-08-03 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002073115 SCV002358674 likely benign Cortical dysplasia-focal epilepsy syndrome 2024-12-08 criteria provided, single submitter clinical testing

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