ClinVar Miner

Submissions for variant NM_005076.5(CNTN2):c.1075C>A (p.Arg359Ser)

gnomAD frequency: 0.00004  dbSNP: rs371816961
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genomic Research Center, Shahid Beheshti University of Medical Sciences RCV000625909 SCV000746491 uncertain significance Epilepsy, familial adult myoclonic, 5 2019-04-06 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000625909 SCV001072735 likely benign Epilepsy, familial adult myoclonic, 5 2024-01-19 criteria provided, single submitter clinical testing

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