ClinVar Miner

Submissions for variant NM_001330260.2(SCN8A):c.4963G>A (p.Gly1655Ser)

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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 RCV004759615 SCV005368349 likely pathogenic Developmental and epileptic encephalopathy, 13 2024-08-22 criteria provided, single submitter clinical testing Criteria applied: PM1_STR,PM2_SUP,PP3_MOD

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