ClinVar Miner

Submissions for variant NM_005076.5(CNTN2):c.486A>C (p.Pro162=)

gnomAD frequency: 0.04775  dbSNP: rs114050151
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 RCV001522539 SCV001732111 benign Epilepsy, familial adult myoclonic, 5 2024-02-01 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004714250 SCV005281746 benign not provided criteria provided, single submitter not provided

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