ClinVar Miner

Submissions for variant NM_012281.3(KCND2):c.1374+18del

gnomAD frequency: 0.00001  dbSNP: rs780298667
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002216534 SCV002363642 likely benign Early myoclonic encephalopathy 2023-04-15 criteria provided, single submitter clinical testing

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