ClinVar Miner

Submissions for variant NM_005076.5(CNTN2):c.178G>A (p.Ala60Thr)

gnomAD frequency: 0.01264  dbSNP: rs12076297
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 RCV000560279 SCV000654440 benign Epilepsy, familial adult myoclonic, 5 2024-02-01 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004714064 SCV005281741 benign not provided criteria provided, single submitter not provided

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