ClinVar Miner

Submissions for variant NM_005076.5(CNTN2):c.3084C>T (p.Ser1028=)

gnomAD frequency: 0.00004  dbSNP: rs374947887
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001427575 SCV001630259 likely benign Epilepsy, familial adult myoclonic, 5 2022-07-05 criteria provided, single submitter clinical testing

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