ClinVar Miner

Submissions for variant NM_005076.5(CNTN2):c.2760C>T (p.Ser920=)

gnomAD frequency: 0.00010  dbSNP: rs201621031
Minimum review status: Collection method:
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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 RCV001437328 SCV001640181 likely benign Epilepsy, familial adult myoclonic, 5 2023-10-03 criteria provided, single submitter clinical testing

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