ClinVar Miner

Submissions for variant NM_001130438.3(SPTAN1):c.1462-2A>G

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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 RCV003992646 SCV004812143 likely pathogenic Developmental and epileptic encephalopathy, 5 2022-05-25 criteria provided, single submitter clinical testing Criteria applied: PVS1_STR,PM2_SUP,PP1

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