ClinVar Miner

Submissions for variant NM_001040142.2(SCN2A):c.2501G>A (p.Ser834Asn)

dbSNP: rs1699364791
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory of Inherited Metabolic Diseases, Research centre for medical genetics RCV001089728 SCV001245215 likely pathogenic Developmental and epileptic encephalopathy, 11 2020-02-14 criteria provided, single submitter clinical testing
Centogene AG - the Rare Disease Company RCV001089728 SCV002059715 likely pathogenic Developmental and epileptic encephalopathy, 11 2019-12-23 criteria provided, single submitter clinical testing

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