ClinVar Miner

Submissions for variant NM_003000.2(SDHB):c.287-4T>C (rs200419171)

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
Invitae RCV000457902 SCV000563758 likely benign Gastrointestinal stromal tumor; Paragangliomas 4; Pheochromocytoma 2020-12-04 criteria provided, single submitter clinical testing
Ambry Genetics RCV000563461 SCV000675064 benign Hereditary cancer-predisposing syndrome 2020-03-30 criteria provided, single submitter clinical testing In silico models in agreement (benign);Internal frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance;RNA Studies
GeneDx RCV000604153 SCV000732854 likely benign not specified 2018-01-15 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.
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV001289866 SCV001477865 likely benign none provided 2020-02-18 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.