ClinVar Miner

Submissions for variant NM_022455.4(NSD1):c.3722G>C (p.Ser1241Thr) (rs138641637)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 5
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000719575 SCV000850444 likely benign History of neurodevelopmental disorder 2017-01-26 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: In silico models in agreement (benign),Subpopulation frequency in support of benign classification
Genetic Services Laboratory, University of Chicago RCV000146816 SCV000194144 likely benign not specified 2013-02-08 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000306825 SCV000456497 likely benign Weaver syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000366298 SCV000456498 likely benign Sotos syndrome 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000542107 SCV000623203 likely benign Beckwith-Wiedemann syndrome 2017-12-22 criteria provided, single submitter clinical testing

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.