ClinVar Miner

Submissions for variant NM_014141.6(CNTNAP2):c.1992T>C (p.Val664=)

dbSNP: rs1584873096
Minimum review status: Collection method:
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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 RCV001468043 SCV001672080 likely benign Cortical dysplasia-focal epilepsy syndrome 2018-11-30 criteria provided, single submitter clinical testing

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