ClinVar Miner

Submissions for variant NM_020822.3(KCNT1):c.1326_1327delinsAT (p.Met443Leu) (rs1554773537)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000650665 SCV000772512 likely benign Early infantile epileptic encephalopathy 14; Epilepsy, nocturnal frontal lobe, 5 2018-01-06 criteria provided, single submitter clinical testing

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