ClinVar Miner

Submissions for variant NM_014141.6(CNTNAP2):c.2046C>T (p.Cys682=)

gnomAD frequency: 0.00003  dbSNP: rs201076428
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001704981 SCV000240733 likely benign not provided 2020-01-28 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000462531 SCV000553441 likely benign Cortical dysplasia-focal epilepsy syndrome 2025-01-19 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003917708 SCV004729791 likely benign CNTNAP2-related disorder 2019-05-10 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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