ClinVar Miner

Submissions for variant NM_005076.5(CNTN2):c.2125+8T>A

gnomAD frequency: 0.00027  dbSNP: rs572060537
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002136762 SCV002405707 benign Epilepsy, familial adult myoclonic, 5 2022-11-03 criteria provided, single submitter clinical testing

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