ClinVar Miner

Submissions for variant NM_012281.3(KCND2):c.1473C>T (p.His491=)

gnomAD frequency: 0.00127  dbSNP: rs145422660
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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 RCV000560331 SCV000632253 benign Early myoclonic encephalopathy 2025-01-06 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004712874 SCV005267032 benign not provided criteria provided, single submitter not provided
PreventionGenetics, part of Exact Sciences RCV003979961 SCV004794286 likely benign KCND2-related disorder 2019-04-17 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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