ClinVar Miner

Submissions for variant NM_001130438.3(SPTAN1):c.4936C>T (p.Gln1646Ter)

dbSNP: rs1856640613
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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 RCV001253713 SCV001429564 pathogenic Developmental and epileptic encephalopathy, 5 2022-12-06 criteria provided, single submitter clinical testing Criteria applied: PVS1, PS2_MOD, PM2_SUP

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