ClinVar Miner

Submissions for variant NM_022455.4(NSD1):c.4378+1G>A (rs587784115)

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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 RCV000146831 SCV000194160 pathogenic Sotos syndrome 1 2013-02-08 criteria provided, single submitter clinical testing
Génétique des Maladies du Développement, Hospices Civils de Lyon RCV000760278 SCV000890118 likely pathogenic Sotos syndrome 1; Acute myeloid leukemia 2017-07-31 criteria provided, single submitter clinical testing

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