ClinVar Miner

Submissions for variant NM_001040142.2(SCN2A):c.2388+1G>A

dbSNP: rs1698674881
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center RCV003387531 SCV004099047 pathogenic Developmental and epileptic encephalopathy, 11 2023-08-16 criteria provided, single submitter clinical testing PVS1, PS2, PS4_Supporting
GenomeConnect - Simons Searchlight RCV001265133 SCV001443167 pathogenic Complex neurodevelopmental disorder 2016-03-29 no assertion criteria provided provider interpretation Submission from Simons Searchlight facilitated by GenomeConnect. Variant interpreted by the Simons Searchlight team most recently on 2016-03-29 and interpreted as Pathogenic. Variant was initially reported on 2013-05-22 by GTR ID of laboratory name 1238. The reporting laboratory might also submit to ClinVar.

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