ClinVar Miner

Submissions for variant NM_014141.6(CNTNAP2):c.18C>A (p.Arg6=)

gnomAD frequency: 0.00001  dbSNP: rs748908765
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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 RCV001089265 SCV000289927 likely benign Cortical dysplasia-focal epilepsy syndrome 2024-09-24 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000365715 SCV000333259 uncertain significance not provided 2015-07-23 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV001820748 SCV002071612 uncertain significance not specified 2017-11-08 criteria provided, single submitter clinical testing

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