ClinVar Miner

Submissions for variant NM_001040142.2(SCN2A):c.4454G>A (p.Gly1485Asp)

dbSNP: rs1701579057
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, University Hospital Muenster RCV004797956 SCV005419329 likely pathogenic See cases 2023-11-08 criteria provided, single submitter clinical testing ACMG categories: PM1,PM2,PP3,PP5
Neurology Department, Shenzhen Children's Hospital RCV001847344 SCV002099462 pathogenic Developmental and epileptic encephalopathy 2022-02-16 no assertion criteria provided clinical testing

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