ClinVar Miner

Submissions for variant NM_022455.5(NSD1):c.5965C>T (p.Gln1989Ter)

dbSNP: rs587784170
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV003231290 SCV000194228 pathogenic Sotos syndrome 2013-02-08 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000763137 SCV000893697 pathogenic Acute myeloid leukemia; Sotos syndrome 2018-10-31 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003231290 SCV002054959 pathogenic Sotos syndrome 2021-07-15 criteria provided, single submitter clinical testing

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