ClinVar Miner

Submissions for variant NM_002080.4(GOT2):c.618TCT[2] (p.Leu209del)

dbSNP: rs1473654961
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
TIDEX, University of British Columbia RCV000851525 SCV000993673 likely pathogenic Early infantile epileptic encephalopathy with suppression bursts 2019-07-17 criteria provided, single submitter research
OMIM RCV000984860 SCV001132750 pathogenic Developmental and epileptic encephalopathy, 82 2020-10-11 no assertion criteria provided literature only

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