ClinVar Miner

Variants with conflicting interpretations "likely benign" from Knight Diagnostic Laboratories, Oregon Health and Sciences University and "benign" from any submitter

Minimum review status of the submission from Knight Diagnostic Laboratories, Oregon Health and Sciences University: Collection method of the submission from Knight Diagnostic Laboratories, Oregon Health and Sciences University:
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 5
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000257.4(MYH7):c.975C>T (p.Asp325=) rs2231124 0.01865
NM_001083116.3(PRF1):c.755A>G (p.Asn252Ser) rs28933375 0.00756
NM_003331.5(TYK2):c.2783C>T (p.Ala928Val) rs35018800 0.00499
NM_015175.3(NBEAL2):c.5103C>T (p.Phe1701=) rs199537643 0.00260
NM_001243279.3(ACSF3):c.1562C>G (p.Thr521Ser) rs201022212 0.00019

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.