ClinVar Miner

Submissions for variant NM_005076.5(CNTN2):c.2349C>T (p.Pro783=)

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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 RCV002838785 SCV003212348 likely benign Epilepsy, familial adult myoclonic, 5 2022-07-27 criteria provided, single submitter clinical testing

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