ClinVar Miner

Variants with conflicting interpretations "benign" from Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen and "benign" from any submitter

Minimum review status of the submission from Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen: Collection method of the submission from Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen:
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 12
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000038.6(APC):c.5465T>A (p.Val1822Asp) rs459552 0.82099
NM_000535.7(PMS2):c.1408C>T (p.Pro470Ser) rs1805321 0.37107
NM_001048174.2(MUTYH):c.930G>C (p.Gln310His) rs3219489 0.26720
NM_020975.6(RET):c.2071G>A (p.Gly691Ser) rs1799939 0.16640
NM_001048174.2(MUTYH):c.22G>A (p.Val8Met) rs3219484 0.04794
NM_020975.6(RET):c.2944C>T (p.Arg982Cys) rs17158558 0.01567
NM_001370259.2(MEN1):c.512G>A (p.Arg171Gln) rs607969 0.01309
NM_000548.5(TSC2):c.1100G>A (p.Arg367Gln) rs1800725 0.01203
NM_001048174.2(MUTYH):c.1460C>T (p.Ser487Phe) rs140118273 0.00997
NM_003000.3(SDHB):c.487T>C (p.Ser163Pro) rs33927012 0.00921
NM_001042492.3(NF1):c.528T>A (p.Asp176Glu) rs112306990 0.00398
NM_000264.5(PTCH1):c.3944C>T (p.Pro1315Leu) rs357564

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.