ClinVar Miner

Submissions for variant NM_005076.5(CNTN2):c.391+12G>A

gnomAD frequency: 0.01337  dbSNP: rs16855012
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002163255 SCV002462746 benign Epilepsy, familial adult myoclonic, 5 2024-02-01 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002163255 SCV002809166 likely benign Epilepsy, familial adult myoclonic, 5 2022-01-24 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004714383 SCV005281744 benign not provided criteria provided, single submitter not provided

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