ClinVar Miner

Submissions for variant NM_005076.5(CNTN2):c.947C>T (p.Thr316Ile)

gnomAD frequency: 0.00468  dbSNP: rs139732336
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 RCV001079625 SCV000654465 benign Epilepsy, familial adult myoclonic, 5 2024-01-29 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000549061 SCV001150591 uncertain significance not provided 2017-04-01 criteria provided, single submitter clinical testing

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