ClinVar Miner

Submissions for variant NM_001040142.2(SCN2A):c.2635G>A (p.Gly879Arg)

dbSNP: rs796053115
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute Of Human Genetics Munich, Klinikum Rechts Der Isar, Tu München RCV000578274 SCV000680363 pathogenic Developmental and epileptic encephalopathy, 11 2017-12-11 criteria provided, single submitter clinical testing
GenomeConnect - Simons Searchlight RCV001265498 SCV001443642 pathogenic Complex neurodevelopmental disorder 2016-02-16 no assertion criteria provided provider interpretation Submission from Simons Searchlight facilitated by GenomeConnect. Variant interpreted by the Simons Searchlight team most recently on 2016-02-16 and interpreted as Pathogenic. Variant was initially reported on 2014-01-14 by GTR ID of laboratory name 193071. The reporting laboratory might also submit to ClinVar.
Channelopathy-Associated Epilepsy Research Center RCV001265498 SCV004232419 not provided Complex neurodevelopmental disorder no assertion provided literature only

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