ClinVar Miner

Submissions for variant NM_001040142.2(SCN2A):c.3464_3468del (p.Glu1155fs)

dbSNP: rs1574691534
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV000997263 SCV001152485 likely pathogenic not provided 2016-08-01 criteria provided, single submitter clinical testing
GenomeConnect - Simons Searchlight RCV001265334 SCV001443451 pathogenic Complex neurodevelopmental disorder 2016-09-22 no assertion criteria provided provider interpretation Submission from Simons Searchlight facilitated by GenomeConnect. Variant interpreted by the Simons Searchlight team most recently on 2016-09-22 and interpreted as Pathogenic. Variant was initially reported on 2016-08-23 by GTR ID of laboratory name Practice of Human Genetics Tubingen. The reporting laboratory might also submit to ClinVar.

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