ClinVar Miner

Submissions for variant NC_000001.10:g.(?_205022314)_(205042893_?)del

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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 RCV003116305 SCV003794745 pathogenic Epilepsy, familial adult myoclonic, 5 2022-06-01 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals affected with CNTN2-related conditions. A gross deletion of the genomic region encompassing the full coding sequence of the CNTN2 gene has been identified. Loss-of-function variants in CNTN2 are known to be pathogenic (PMID: 11178983, 23518707). The boundaries of this event are unknown as they extend beyond the assayed region for this gene and therefore may encompass additional genes.

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