ClinVar Miner

Submissions for variant NM_014141.6(CNTNAP2):c.1989C>T (p.Leu663=)

gnomAD frequency: 0.00001  dbSNP: rs766429279
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000980287 SCV001128237 likely benign Cortical dysplasia-focal epilepsy syndrome 2024-06-13 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003424514 SCV004161274 likely benign not provided 2022-05-01 criteria provided, single submitter clinical testing CNTNAP2: BP4, BP7
PreventionGenetics, part of Exact Sciences RCV004726751 SCV005336351 likely benign CNTNAP2-related disorder 2024-05-21 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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