ClinVar Miner

Submissions for variant NM_022455.5(NSD1):c.7275A>G (p.Leu2425=)

gnomAD frequency: 0.00009  dbSNP: rs139879749
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000254186 SCV000314080 likely benign not specified criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003231424 SCV001009893 benign Sotos syndrome 2022-10-18 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003231424 SCV002054886 benign Sotos syndrome 2021-07-15 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV003231424 SCV002808882 likely benign Sotos syndrome 2022-03-29 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.