ClinVar Miner

Submissions for variant NM_001365999.1(SZT2):c.7936C>T (p.Arg2646Trp)

dbSNP: rs906119040
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000519864 SCV000620118 uncertain significance not provided 2019-06-11 criteria provided, single submitter clinical testing Not observed in large population cohorts (Lek et al., 2016); In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect
Institute of Human Genetics, University of Leipzig Medical Center RCV001262973 SCV001441039 uncertain significance Developmental and epileptic encephalopathy, 18 2019-01-01 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001262973 SCV004177983 uncertain significance Developmental and epileptic encephalopathy, 18 2023-04-11 criteria provided, single submitter clinical testing

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