ClinVar Miner

Submissions for variant NM_012281.3(KCND2):c.1116-18A>T

gnomAD frequency: 0.00006  dbSNP: rs368667977
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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 RCV002158995 SCV002475121 benign Early myoclonic encephalopathy 2024-01-22 criteria provided, single submitter clinical testing

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