ClinVar Miner

Submissions for variant NM_012281.3(KCND2):c.1173G>A (p.Ser391=)

gnomAD frequency: 0.00005  dbSNP: rs367909110
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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 RCV001398003 SCV001599769 likely benign Early myoclonic encephalopathy 2024-10-27 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003963273 SCV004794909 likely benign KCND2-related disorder 2019-03-29 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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