ClinVar Miner

Submissions for variant NM_005076.5(CNTN2):c.2545-12C>T

gnomAD frequency: 0.00175  dbSNP: rs201687043
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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 RCV002122408 SCV002398401 benign Epilepsy, familial adult myoclonic, 5 2024-01-29 criteria provided, single submitter clinical testing

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