ClinVar Miner

Submissions for variant NM_000142.5(FGFR3):c.417C>T (p.Asp139=) (rs3135867)

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
PreventionGenetics,PreventionGenetics RCV000252545 SCV000302630 benign not specified criteria provided, single submitter clinical testing
GeneDx RCV000252545 SCV000513034 benign not specified 2016-03-03 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Invitae RCV000548371 SCV000640380 benign Craniosynostosis syndrome 2019-12-31 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000711639 SCV000842025 benign not provided 2018-05-05 criteria provided, single submitter clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV000252545 SCV001799165 benign not specified no assertion criteria provided 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.