ClinVar Miner

Submissions for variant NM_001330260.2(SCN8A):c.4587G>T (p.Met1529Ile)

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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 RCV002468897 SCV002765123 uncertain significance Developmental and epileptic encephalopathy, 13 2022-12-08 criteria provided, single submitter clinical testing regarding PM5, see p.Met1529Val in Johannesen et al., 2019, PMID: 30968951_x000D_ Criteria applied: PM5, PM2_SUP, PP2, PP3

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