ClinVar Miner

Submissions for variant NM_022455.5(NSD1):c.4378+1G>A

dbSNP: rs587784115
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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 RCV003231228 SCV000194160 pathogenic Sotos syndrome 2013-02-08 criteria provided, single submitter clinical testing
Génétique des Maladies du Développement, Hospices Civils de Lyon RCV000760278 SCV000890118 likely pathogenic Acute myeloid leukemia; Sotos syndrome 2017-07-31 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003231228 SCV002054937 pathogenic Sotos syndrome 2021-07-15 criteria provided, single submitter clinical testing

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