ClinVar Miner

Submissions for variant NM_014141.6(CNTNAP2):c.536A>G (p.Tyr179Cys)

gnomAD frequency: 0.00001  dbSNP: rs1057518820
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Centre for Mendelian Genomics, University Medical Centre Ljubljana RCV000415083 SCV000492656 likely benign Hyperactivity; Seizure; Focal-onset seizure; Gait imbalance 2015-11-24 criteria provided, single submitter clinical testing

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