ClinVar Miner

Submissions for variant NM_014141.6(CNTNAP2):c.180C>T (p.Pro60=)

gnomAD frequency: 0.00003  dbSNP: rs753396304
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000310624 SCV000333799 uncertain significance not provided 2015-08-06 criteria provided, single submitter clinical testing
Invitae RCV001464806 SCV001668781 likely benign Cortical dysplasia-focal epilepsy syndrome 2023-10-28 criteria provided, single submitter clinical testing
GeneDx RCV000310624 SCV001939455 likely benign not provided 2018-11-02 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003897606 SCV004714821 likely benign CNTNAP2-related condition 2022-03-18 criteria provided, single submitter 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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