ClinVar Miner

Submissions for variant NM_014141.6(CNTNAP2):c.1479C>G (p.Gly493=)

dbSNP: rs779384498
Minimum review status: Collection method:
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ClinVar version:
Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000978785 SCV001126719 likely benign Cortical dysplasia-focal epilepsy syndrome 2022-07-26 criteria provided, single submitter clinical testing

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