ClinVar Miner

Submissions for variant NM_001165963.4(SCN1A):c.4318G>A (p.Ala1440Thr)

dbSNP: rs2105486716
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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 RCV002267698 SCV002549875 pathogenic Severe myoclonic epilepsy in infancy 2022-07-18 criteria provided, single submitter clinical testing _x000D_ Criteria applied: PM5_STR, PS2_MOD, PM1, PS4_SUP, PM2_SUP, PP3

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