ClinVar Miner

Submissions for variant NM_020988.3(GNAO1):c.510del (p.Thr171fs)

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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 RCV005001956 SCV005627516 pathogenic Developmental and epileptic encephalopathy, 17 2024-12-19 criteria provided, single submitter clinical testing Criteria applied: PVS1,PS2_MOD,PM2

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