ClinVar Miner

Submissions for variant NM_005076.5(CNTN2):c.2922T>G (p.Pro974=)

gnomAD frequency: 0.01076  dbSNP: rs116036521
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000533264 SCV000654452 benign Epilepsy, familial adult myoclonic, 5 2025-02-03 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004714068 SCV005281759 benign not provided criteria provided, single submitter not provided

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