ClinVar Miner

Submissions for variant NM_005076.5(CNTN2):c.2155G>A (p.Gly719Arg)

gnomAD frequency: 0.00082  dbSNP: rs144056952
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000526508 SCV000654446 likely benign Epilepsy, familial adult myoclonic, 5 2024-01-16 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004711180 SCV005261160 likely benign not provided criteria provided, single submitter not provided
PreventionGenetics, part of Exact Sciences RCV003945308 SCV004765222 likely benign CNTN2-related disorder 2020-08-04 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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