ClinVar Miner

Submissions for variant NM_005076.5(CNTN2):c.2964G>A (p.Gly988=)

gnomAD frequency: 0.00002  dbSNP: rs566959580
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000651702 SCV000773556 benign Epilepsy, familial adult myoclonic, 5 2024-01-19 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003918066 SCV004728518 benign CNTN2-related disorder 2021-02-11 no assertion criteria provided clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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