ClinVar Miner

Submissions for variant NM_014141.6(CNTNAP2):c.3248-10T>C

gnomAD frequency: 0.00001  dbSNP: rs999378427
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001704287 SCV000527360 likely benign not provided 2021-06-23 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003114557 SCV003785671 likely benign Cortical dysplasia-focal epilepsy syndrome 2024-12-02 criteria provided, single submitter clinical testing

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