ClinVar Miner

Submissions for variant NM_014141.6(CNTNAP2):c.98-19_98-16del

dbSNP: rs796052367
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000187163 SCV000240742 benign not specified 2014-08-26 criteria provided, single submitter clinical testing The variant is found in EPILEPSY,INFANT-EPI panel(s).
Labcorp Genetics (formerly Invitae), Labcorp RCV002054195 SCV002414610 benign Cortical dysplasia-focal epilepsy syndrome 2025-01-13 criteria provided, single submitter clinical testing

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