ClinVar Miner

Submissions for variant NM_005076.5(CNTN2):c.3085G>A (p.Val1029Met)

gnomAD frequency: 0.00054  dbSNP: rs139534426
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 RCV001327009 SCV001518067 likely benign Epilepsy, familial adult myoclonic, 5 2023-11-27 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004711571 SCV005261161 likely benign not provided criteria provided, single submitter not provided

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