ClinVar Miner

Submissions for variant NM_014141.6(CNTNAP2):c.267T>C (p.Phe89=)

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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 RCV003504584 SCV004305446 likely benign Cortical dysplasia-focal epilepsy syndrome 2023-09-11 criteria provided, single submitter clinical testing

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