ClinVar Miner

Submissions for variant NM_005076.5(CNTN2):c.1653C>T (p.Ile551=)

gnomAD frequency: 0.00008  dbSNP: rs147493920
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000908326 SCV001053082 likely benign Epilepsy, familial adult myoclonic, 5 2023-10-03 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003977949 SCV004791324 likely benign CNTN2-related disorder 2019-04-02 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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