ClinVar Miner

Submissions for variant NM_004333.6(BRAF):c.2128-10_2128-9insC

gnomAD frequency: 0.00003  dbSNP: rs758588300
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV001813616 SCV002060464 benign Noonan syndrome and Noonan-related syndrome 2021-07-13 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002503304 SCV002807207 likely benign Cardiofaciocutaneous syndrome 1; Noonan syndrome 1; LEOPARD syndrome 3; Noonan syndrome 7; Melanoma, cutaneous malignant, susceptibility to, 1; Colorectal cancer; Lung cancer 2021-09-06 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002542449 SCV003473980 likely benign RASopathy 2024-03-28 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.