ClinVar Miner

Submissions for variant NM_014141.6(CNTNAP2):c.1777+9C>T

gnomAD frequency: 0.00001  dbSNP: rs773304645
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001433244 SCV001636033 likely benign Cortical dysplasia-focal epilepsy syndrome 2024-10-17 criteria provided, single submitter clinical testing

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