ClinVar Miner

Submissions for variant NM_014141.6(CNTNAP2):c.542G>T (p.Cys181Phe)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
MGZ Medical Genetics Center RCV002290193 SCV002579346 uncertain significance Cortical dysplasia-focal epilepsy syndrome 2021-06-29 criteria provided, single submitter clinical testing

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