ClinVar Miner

Submissions for variant NM_003000.2(SDHB):c.606C>T (p.Asn202=) (rs199653121)

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
Invitae RCV000231888 SCV000287779 likely benign Gastrointestinal stromal tumor; Paragangliomas 4; Pheochromocytoma 2020-12-06 criteria provided, single submitter clinical testing
Ambry Genetics RCV001024856 SCV001186943 likely benign Hereditary cancer-predisposing syndrome 2015-05-23 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
GeneDx RCV001550804 SCV001771194 likely benign not provided 2019-01-09 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.