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
1588 1 0 0 0 21 0 21

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 likely benign benign risk factor other
drug response 9 11 1 4

Submitter to submitter summary #

Total submitters: 7
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 12 0 12
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 0 0 0 0 0 6 0 6
OMIM 0 2 0 0 0 3 0 3
PreventionGenetics, PreventionGenetics 0 0 0 0 0 3 0 3
Invitae 0 0 0 0 0 3 0 3
Laboratory for Molecular Medicine,Partners HealthCare 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

All variants with conflicting interpretations #

Total variants: 21
Download table as spreadsheet
HGVS dbSNP
CYP2D6*10 rs1065852
CYP2D6*4 rs3892097
CYP2D6*41 rs28371725
NM_000106.5(CYP2D6):c.841_843delAAG (p.Lys281del) rs5030656
NM_000106.6(CYP2D6):c.1457= (p.Ser486=) rs1135840
NM_000106.6(CYP2D6):c.31G>A (p.Val11Met) rs769258
NM_000106.6(CYP2D6):c.709G>T (p.Ala237Ser) rs28371717
NM_000106.6(CYP2D6):c.886= (p.Arg296=) rs16947
NM_000754.3(COMT):c.186C>T (p.His62=) rs4633
NM_000754.3(COMT):c.214G>T (p.Ala72Ser) rs6267
NM_000754.3(COMT):c.408C>G (p.Leu136=) rs4818
NM_000754.4(COMT):c.472G>A (p.Val158Met) rs4680
NM_000914.4(OPRM1):c.1165-11152C>T rs677830
NM_001074.4(UGT2B7):c.1062C>T (p.Tyr354=) rs4348159
NM_001074.4(UGT2B7):c.137T>C (p.Leu46Pro) rs61361928
NM_001145287.2(OPRM1):c.140C>G (p.Ser47Cys) rs17174794
NM_001348946.2(ABCB1):c.1236T>C (p.Gly412=) rs1128503
NM_001348946.2(ABCB1):c.2677T>G (p.Ser893Ala) rs2032582
NM_001348946.2(ABCB1):c.287-25G>T rs2235015
NM_001348946.2(ABCB1):c.3320A>C (p.Gln1107Pro) rs55852620
NM_001348946.2(ABCB1):c.3435T>C (p.Ile1145=) rs1045642

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