ClinVar Miner

Submissions for variant NM_014141.6(CNTNAP2):c.1349-8C>T

gnomAD frequency: 0.00004  dbSNP: rs373995666
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ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000842591 SCV000984616 likely benign not provided 2020-05-27 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001080111 SCV001003401 likely benign Cortical dysplasia-focal epilepsy syndrome 2024-12-17 criteria provided, single submitter clinical testing

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