ClinVar Miner

Submissions for variant NM_005076.5(CNTN2):c.1097C>T (p.Pro366Leu)

gnomAD frequency: 0.36917  dbSNP: rs2229866
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mendelics RCV000986507 SCV001135520 benign Epilepsy, familial adult myoclonic, 5 2019-05-28 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000986507 SCV001726130 benign Epilepsy, familial adult myoclonic, 5 2025-02-04 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000986507 SCV001822199 benign Epilepsy, familial adult myoclonic, 5 2021-07-22 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004714172 SCV005281748 benign not provided criteria provided, single submitter not provided

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