ClinVar Miner

Submissions for variant NM_022455.5(NSD1):c.3922-2_3925delinsG

dbSNP: rs1554195815
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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 RCV003231628 SCV000596112 pathogenic Sotos syndrome 2016-06-01 criteria provided, single submitter clinical testing

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