ClinVar Miner

Submissions for variant NM_001040142.2(SCN2A):c.5551C>T (p.Arg1851Trp)

dbSNP: rs1553463718
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
NeuroMeGen, Hospital Clinico Santiago de Compostela RCV000585849 SCV000693806 likely pathogenic Seizures, benign familial infantile, 3 2018-01-01 criteria provided, single submitter clinical testing
GenomeConnect - Simons Searchlight RCV001265399 SCV001443525 uncertain significance Complex neurodevelopmental disorder 2019-01-29 no assertion criteria provided provider interpretation Submission from Simons Searchlight facilitated by GenomeConnect. Variant interpreted by the Simons Searchlight team most recently on 2019-01-29 and interpreted as Variant of Uncertain significance. Variant was initially reported on 2017-09-25. The reporting laboratory might also submit to ClinVar.

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