ClinVar Miner

Submissions for variant NM_001040142.2(SCN2A):c.3778A>C (p.Lys1260Gln)

dbSNP: rs1553591813
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GenomeConnect - Simons Searchlight RCV001265332 SCV001443449 likely pathogenic Complex neurodevelopmental disorder 2018-02-23 no assertion criteria provided provider interpretation Submission from Simons Searchlight facilitated by GenomeConnect. Variant interpreted by the Simons Searchlight team most recently on 2018-02-23 and interpreted as Likely Pathogenic. Variant was initially reported on 2013-04-19 by GTR ID of laboratory name North East Thames Regional Genetics Service. The reporting laboratory might also submit to ClinVar.
Channelopathy-Associated Epilepsy Research Center RCV001265332 SCV004232403 not provided Complex neurodevelopmental disorder no assertion provided literature only

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