ClinVar Miner

Submissions for variant NM_004974.4(KCNA2):c.585dup (p.His196fs)

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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 RCV002291488 SCV002583818 likely pathogenic Developmental and epileptic encephalopathy, 32 2022-08-10 criteria provided, single submitter clinical testing PVS1_Moderate, PS2, PM2

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