ClinVar Miner

Submissions for variant NM_005076.5(CNTN2):c.2628C>T (p.Ser876=)

gnomAD frequency: 0.29618  dbSNP: rs2229868
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001518260 SCV001726923 benign Epilepsy, familial adult myoclonic, 5 2024-02-01 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001518260 SCV001822201 benign Epilepsy, familial adult myoclonic, 5 2021-07-22 criteria provided, single submitter clinical testing
GeneDx RCV001796544 SCV002032602 benign not provided 2021-12-11 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001796544 SCV005281756 benign not provided criteria provided, single submitter not provided

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