ClinVar Miner

Submissions for variant NM_015559.3(SETBP1):c.1821del (p.Ser608fs)

dbSNP: rs797045952
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000192674 SCV000248848 pathogenic Schinzel-Giedion syndrome 2014-06-03 criteria provided, single submitter clinical testing
GenomeConnect - Simons Searchlight RCV001265509 SCV001443653 pathogenic Intellectual disability, autosomal dominant 29 2017-07-14 no assertion criteria provided provider interpretation Submission from Simons Searchlight facilitated by GenomeConnect. Variant interpreted by the Simons Searchlight team most recently on 2017-07-14 and interpreted as Pathogenic. Variant was initially reported on 2014-05-23 by GTR ID of laboratory name 1238. The reporting laboratory might also submit to ClinVar.

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