ClinVar Miner

Submissions for variant NM_005076.5(CNTN2):c.297C>T (p.Asn99=)

gnomAD frequency: 0.05116  dbSNP: rs9787172
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000541289 SCV000654453 benign Epilepsy, familial adult myoclonic, 5 2024-02-01 criteria provided, single submitter clinical testing
GeneDx RCV001541294 SCV001759271 benign not provided 2018-10-15 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001541294 SCV005281743 benign not provided criteria provided, single submitter not provided

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