ClinVar Miner

Submissions for variant NM_005076.5(CNTN2):c.2844+11A>C

gnomAD frequency: 0.00019  dbSNP: rs377297728
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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 RCV002117462 SCV002408491 likely benign Epilepsy, familial adult myoclonic, 5 2024-01-10 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002117462 SCV002813008 likely benign Epilepsy, familial adult myoclonic, 5 2022-03-28 criteria provided, single submitter clinical testing

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