ClinVar Miner

Submissions for variant NM_001040142.2(SCN2A):c.2642T>C (p.Leu881Pro)

dbSNP: rs796053116
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV000488059 SCV000575241 uncertain significance not provided 2016-12-01 criteria provided, single submitter clinical testing
GenomeConnect - Simons Searchlight RCV001265502 SCV001443646 likely pathogenic Complex neurodevelopmental disorder 2017-01-20 no assertion criteria provided provider interpretation Submission from Simons Searchlight facilitated by GenomeConnect. Variant interpreted by the Simons Searchlight team most recently on 2017-01-20 and interpreted as Likely Pathogenic. Variant was initially reported on 2016-12-07 by GTR ID of laboratory name Practice of Human Genetics Tubingen. The reporting laboratory might also submit to ClinVar.
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000488059 SCV001930532 likely pathogenic not provided no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV000488059 SCV001958765 pathogenic not provided no assertion criteria provided clinical testing

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