ClinVar Miner

Variants from Bruce Budowle Laboratory, University of North Texas Health Science Center with conflicting interpretations

Location: United States  Primary collection method: research
Minimum review status of the submission from Bruce Budowle Laboratory, University of North Texas Health Science Center: Collection method of the submission from Bruce Budowle Laboratory, University of North Texas Health Science Center:
Minimum review status of the other submission: Collection method of the other submission:
Minimum conflict level:
ClinVar version:

If a variant has more than two submissions, it may have multiple conflicts and therefore be counted in more than one conflict column. If this is the case, the "Variants with any kind of conflict" cell will be less than the sum of the conflicted variants cells to its left.

Variants with only 1 submission per condition Variants with at least 2 submissions on the same condition and no conflicts Variants with a synonymous conflict
(e.g. benign vs non-pathogenic)
Variants with a confidence conflict
(e.g. benign vs likely benign)
Variants with a benign or likely benign vs uncertain conflict Variants with a category conflict
(e.g. benign vs affects)
Variants with a clinically significant conflict
(e.g. benign vs pathogenic)
Variants with any conflict
1581 0 0 0 0 29 0 29

Significance breakdown #

In the table below, cells that correspond to a term paired with itself represent synonymous conflicts, i.e. variants that have been annotated with different terms that map to the same standard term. To compare the terms that were actually submitted, check the box in the filters section at the top of this page.

All submitters
Bruce Budowle Laboratory, University of North Texas Health Science Center uncertain significance likely benign benign uncertain risk allele other
drug response 2 15 19 1 4

Submitter to submitter summary #

Total submitters: 13
Download table as spreadsheet
Submitter Variants with only 1 submission per condition Variants with at least 2 submissions on the same condition and no conflicts Variants with a synonymous conflict
(e.g. benign vs non-pathogenic)
Variants with a confidence conflict
(e.g. benign vs likely benign)
Variants with a benign or likely benign vs uncertain conflict Variants with a category conflict
(e.g. benign vs affects)
Variants with a clinically significant conflict
(e.g. benign vs pathogenic)
Variants with any conflict
GeneDx 0 0 0 0 0 19 0 19
PreventionGenetics, part of Exact Sciences 0 0 0 0 0 8 0 8
Eurofins Ntd Llc (ga) 0 0 0 0 0 6 0 6
Invitae 0 0 0 0 0 5 0 5
CeGaT Center for Human Genetics Tuebingen 0 0 0 0 0 4 0 4
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 0 0 0 0 0 3 0 3
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 0 0 3 0 3
Genome Diagnostics Laboratory, Amsterdam University Medical Center 0 0 0 0 0 3 0 3
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 0 0 0 3 0 3
OMIM 0 2 0 0 0 2 0 2
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 0 0 0 0 1 0 1
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia 0 0 0 0 0 1 0 1
Beijing Key Laboratory of Neuropsychopharmacology, State Key Laboratory of Toxicology and Medical Countermeasures, Beijing Institute of Pharmacology and Toxicology 0 0 0 0 0 1 0 1

All variants with conflicting interpretations #

Total variants: 29
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001348946.2(ABCB1):c.1236T>C (p.Gly412=) rs1128503 0.63165
NM_001348946.2(ABCB1):c.3435T>C (p.Ile1145=) rs1045642 0.57896
NM_000754.4(COMT):c.186C>T (p.His62=) rs4633 0.44697
NM_000754.4(COMT):c.472G>A (p.Val158Met) rs4680 0.44044
NM_000106.6(CYP2D6):c.1457= (p.Ser486=) rs1135840 0.42305
NM_000754.4(COMT):c.289+90A>G rs2239393 0.39046
NM_000754.4(COMT):c.408C>G (p.Leu136=) rs4818 0.32165
NM_001348946.2(ABCB1):c.287-25G>T rs2235015 0.23041
NM_000914.5(OPRM1):c.1165-11152C>T rs677830 0.21164
CYP2D6*10 rs1065852 0.18675
NM_000754.4(COMT):c.615+75G>C rs4646315 0.17853
NM_001074.4(UGT2B7):c.1062C>T (p.Tyr354=) rs4348159 0.17671
CYP2D6*4 rs3892097 0.14340
NM_001348946.2(ABCB1):c.61A>G (p.Asn21Asp) rs9282564 0.07388
CYP2D6*41 rs28371725 0.06736
NM_000754.4(COMT):c.219G>A (p.Gln73=) rs740602 0.05987
NM_000754.4(COMT):c.597G>A (p.Pro199=) rs769224 0.04486
NM_000754.4(COMT):c.616-45G>C rs117222687 0.04168
NM_000106.6(CYP2D6):c.31G>A (p.Val11Met) rs769258 0.03995
NM_000106.6(CYP2D6):c.709G>T (p.Ala237Ser) rs28371717 0.00827
NM_001348946.2(ABCB1):c.3320A>C (p.Gln1107Pro) rs55852620 0.00629
NM_000914.5(OPRM1):c.575G>T (p.Cys192Phe) rs62638690 0.00573
NM_000914.5(OPRM1):c.440C>G (p.Ser147Cys) rs17174794 0.00425
NM_001074.4(UGT2B7):c.137T>C (p.Leu46Pro) rs61361928 0.00284
NM_000914.5(OPRM1):c.-25C>T rs41292890 0.00226
NM_000106.6(CYP2D6):c.841_843del (p.Lys281del) rs5030656
NM_000106.6(CYP2D6):c.886= (p.Arg296=) rs16947
NM_001348946.2(ABCB1):c.2677T>G (p.Ser893Ala) rs2032582
NM_001348946.2(ABCB1):c.521G>A (p.Arg174Gln) rs201280497

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