ClinVar Miner

Submissions for variant NM_001040142.2(SCN2A):c.2986G>A (p.Asp996Asn)

dbSNP: rs2105336868
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory of Medical Genetics, National & Kapodistrian University of Athens RCV001730051 SCV001976822 likely pathogenic Developmental and epileptic encephalopathy, 11 2021-10-05 criteria provided, single submitter clinical testing PM1, PM2, PP1, PP2, PP3

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