ClinVar Miner

Submissions for variant NM_005076.5(CNTN2):c.1516C>A (p.Arg506=)

gnomAD frequency: 0.01070  dbSNP: rs114903768
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 RCV000543525 SCV000654436 benign Epilepsy, familial adult myoclonic, 5 2024-02-01 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004714063 SCV005281750 benign not provided criteria provided, single submitter not provided

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