ClinVar Miner

Submissions for variant NM_022455.5(NSD1):c.3383_3384del (p.Ser1128fs)

dbSNP: rs587784101
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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 RCV003231209 SCV000194136 pathogenic Sotos syndrome 2013-02-08 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003231209 SCV001412227 pathogenic Sotos syndrome 2021-08-31 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003231209 SCV002054926 pathogenic Sotos syndrome 2021-07-15 criteria provided, single submitter clinical testing

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