ClinVar Miner

Submissions for variant NM_005076.5(CNTN2):c.433G>A (p.Ala145Thr)

gnomAD frequency: 0.17435  dbSNP: rs2275697
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 RCV001522165 SCV001731649 benign Epilepsy, familial adult myoclonic, 5 2024-02-01 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004715470 SCV005281745 benign not provided criteria provided, single submitter not provided

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