ClinVar Miner

Submissions for variant NM_005076.5(CNTN2):c.2196+42C>T

dbSNP: rs2305275
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genome-Nilou Lab RCV001588053 SCV001822200 benign Epilepsy, familial adult myoclonic, 5 2021-07-22 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004715528 SCV005281753 benign not provided criteria provided, single submitter not provided

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