ClinVar Miner

Submissions for variant NM_005076.5(CNTN2):c.2469G>A (p.Gly823=)

gnomAD frequency: 0.00031  dbSNP: rs138090348
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000551782 SCV000654448 benign Epilepsy, familial adult myoclonic, 5 2023-12-06 criteria provided, single submitter clinical testing

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