ClinVar Miner

Submissions for variant NM_005076.5(CNTN2):c.2577A>G (p.Ala859=)

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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 RCV002637967 SCV003516312 likely benign Epilepsy, familial adult myoclonic, 5 2022-09-27 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003886601 SCV004703526 likely benign not provided 2024-01-01 criteria provided, single submitter clinical testing CNTN2: BP4, BP7

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