ClinVar Miner

Submissions for variant NM_012281.3(KCND2):c.122C>T (p.Ala41Val)

gnomAD frequency: 0.00005  dbSNP: rs775640968
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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 RCV002083664 SCV002375697 likely benign Early myoclonic encephalopathy 2023-09-22 criteria provided, single submitter clinical testing

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