ClinVar Miner

Submissions for variant NM_014141.6(CNTNAP2):c.2553G>A (p.Lys851=)

gnomAD frequency: 0.00001  dbSNP: rs759413523
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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 RCV001412973 SCV001615075 likely benign Cortical dysplasia-focal epilepsy syndrome 2024-10-08 criteria provided, single submitter clinical testing

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