ClinVar Miner

Submissions for variant NM_004975.4(KCNB1):c.1503dup (p.Lys502Ter)

dbSNP: rs2146813259
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center RCV001814889 SCV002061786 pathogenic Developmental and epileptic encephalopathy, 26 2021-12-29 criteria provided, single submitter clinical testing PVS1, PS2, PM2

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