ClinVar Miner

Variants with conflicting interpretations "uncertain significance" from Invitae and "drug response" from any submitter

Minimum review status of the submission from Invitae: Collection method of the submission from Invitae:
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 8
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_004924.6(ACTN4):c.170C>T (p.Thr57Met) rs768656011 0.00001
NM_000540.3(RYR1):c.1209C>G (p.Ile403Met) rs118192116
NM_001130009.3(GEN1):c.1981C>T (p.Leu661Phe)
NM_001130009.3(GEN1):c.2633T>C (p.Leu878Pro)
NM_001130009.3(GEN1):c.761T>C (p.Val254Ala)
NM_005228.5(EGFR):c.2155G>A (p.Gly719Ser) rs28929495
NM_005228.5(EGFR):c.2235_2249del (p.Glu746_Ala750del) rs121913421
NM_006231.4(POLE):c.857C>G (p.Pro286Arg) rs1057519943

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.