ClinVar Miner

Submissions for variant NM_001365999.1(SZT2):c.153+1G>A

dbSNP: rs1649902998
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001562542 SCV001785321 likely pathogenic not provided 2019-10-04 criteria provided, single submitter clinical testing Canonical splice site variant predicted to result in an in-frame deletion/insertion of a critical region; Not observed in large population cohorts (Lek et al., 2016); Has not been previously published as pathogenic or benign to our knowledge
Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine RCV001843594 SCV002102853 likely pathogenic Developmental and epileptic encephalopathy, 18 2021-10-21 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001843594 SCV004174037 likely pathogenic Developmental and epileptic encephalopathy, 18 2023-04-11 criteria provided, single submitter clinical testing

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