ClinVar Miner

Submissions for variant NM_020822.3(KCNT1):c.2915T>A (p.Ile972Asn)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, University of Leipzig Medical Center RCV004759542 SCV005368185 uncertain significance Developmental and epileptic encephalopathy, 14 2024-07-10 criteria provided, single submitter clinical testing Criteria applied: PM2,PP2,PP3

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