ClinVar Miner

Submissions for variant NM_005076.5(CNTN2):c.1405C>A (p.Pro469Thr)

gnomAD frequency: 0.00148  dbSNP: rs147693556
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000542723 SCV000654433 likely benign Epilepsy, familial adult myoclonic, 5 2024-01-24 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV000542723 SCV000782682 uncertain significance Epilepsy, familial adult myoclonic, 5 2017-06-19 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000542723 SCV000896224 uncertain significance Epilepsy, familial adult myoclonic, 5 2018-10-31 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV000542723 SCV003831077 uncertain significance Epilepsy, familial adult myoclonic, 5 2019-06-06 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003925694 SCV004746643 likely benign CNTN2-related disorder 2023-04-11 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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