ClinVar Miner

Submissions for variant NM_022455.5(NSD1):c.5800C>T (p.Gln1934Ter)

dbSNP: rs587784157
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV003231278 SCV000194215 pathogenic Sotos syndrome 2013-02-08 criteria provided, single submitter clinical testing

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